1. Gene
  2. SPG21 - SPG21 abhydrolase domain containing, maspardin Gene

SPG21 - SPG21 abhydrolase domain containing, maspardin Gene

中文名称:含 SPG21 脱氢酶结构域,maspardin

种属: Homo sapiens

同用名: MAST; ACP33; GL010; ABHD21; BM-019

基因 ID: 51324 | 基因类型: protein coding

关于 SPG21

Cytogenetic location: 15q22.31 Genomic coordinates (GRCh38): 15:64,963,022-64,989,914 (from NCBI)

This gene has 14 transcripts (splice variants), 222 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 30.9), placenta (RPKM 23.1) and 25 other tissues.

功能概要

该基因编码的蛋白质与 CD4 的疏水性 C 端氨基酸结合,后者参与抑制 T 细胞活化。与 CD4 的相互作用是由该蛋白质的非催化性 α/β 水解酶折叠结构域介导的。因此提出该基因产物调节 CD4 的刺激活性。该基因的突变与常染色体隐性遗传性痉挛性截瘫 21 (SPG21) ,也称为肥大综合征有关。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 8 月]

The protein encoded by this gene binds to the hydrophobic C-terminal Amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

SPG21 基因产物(3)

mRNA Protein Name
NM_001127889.5 NP_001121361.1 maspardin isoform a
NM_001127890.5 NP_001121362.1 maspardin isoform b
NM_016630.7 NP_057714.1 maspardin isoform a

SPG21 蛋白结构

Abhydrolase_6

Abhydrolase_6: Alpha/beta hydrolase family (46 - 264)

  • 0
  • 100
  • 200
  • 308 a.a.
蛋白主名 其他名称

maspardin

SPG21, maspardin

重组 SPG21 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77212 SPG21 Protein, Human (sf9, His) Q9NZD8-1 (M1-Q308) ≥95%

关联疾病

疾病名称 别名
Mast Syndrome

SPG21

Spastic Paraplegia 21, Autosomal Recessive

Autosomal Recessive Spastic Paraplegia Type 21

Autosomal Recessive Spastic Paraplegia 21

Hereditary Spastic Paraplegia 21

Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

Spastic Paraplegia 11, Autosomal Recessive

SPG11

Hereditary Spastic Paraplegia 11

Hsp-Tcc

Autosomal Recessive Spastic Paraplegia Type 11

Nakamura-Osame Syndrome

Spastic Paraplegia-Intellectual Disability-Thin Corpus Callosum Syndrome

Spastic Paraplegia, Autosomal Recessive, With Mental Impairment And Thin Corpus Callosum

Spastic Paraplegia, Autosomal Recessive, Complicated, With Thin Corpus Callosum

Autosomal Recessive Spastic Paraplegia 11

Autosomal Recessive Spastic Paraplegia Complicated With Thin Corpus Callosum

Autosomal Recessive Spastic Paraplegia With Mental Impairment And Thin Corpus Callosum

Arhsp-Tcc

Autosomal Recessive Spastic Paraplegia With Thinning Of Corpus Callosum

Spastic Paraplegia Autosomal Recessive Complicated With Thin Corpus Callosum

Spastic Paraplegia Autosomal Recessive With Mental Impairment And Thin Corpus Callosum

Paraplegia, Spastic, Autosomal Recessive, Type 11

Nakamura Osame Syndrome

Hereditary Spastic Paraplegia 23

Lison Syndrome

Spastic Paraparesis-Vitiligo-Premature Graying-Characteristic Facies Syndrome

Spastic Paraplegia 23

Spastic Paraplegia With Pigmentary Abnormalities

Spg23

Spastic Paraplegia 27, Autosomal Recessive

SPG27

Hereditary Spastic Paraplegia 27

Autosomal Recessive Spastic Paraplegia Type 27

Autosomal Recessive Spastic Paraplegia 27

Spastic Paraplegia-27, Autosomal Recessive

Spastic Paraplegia 63, Autosomal Recessive

SPG63

Hereditary Spastic Paraplegia 63

Spastic Paraplegia 63

Autosomal Recessive Spastic Paraplegia 63

Autosomal Recessive Spastic Paraplegia Type 63

Paraplegia, Spastic, Type 63, Autosomal Recessive

Spastic Paraplegia 44, Autosomal Recessive

SPG44

Hereditary Spastic Paraplegia 44

Autosomal Recessive Spastic Paraplegia 44

Autosomal Recessive Spastic Paraplegia Type 44

Paraplegia, Spastic, Type 44, Autosomal Recessive

Spastic Paraplegia 55, Autosomal Recessive

SPG55

Hereditary Spastic Paraplegia 55

Autosomal Recessive Spastic Paraplegia Type 55

Autosomal Recessive Spastic Paraplegia 55

Paraplegia, Spastic, Autosomal Recessive, Type 55

Spastic Paraplegia 41, Autosomal Dominant

SPG41

Hereditary Spastic Paraplegia 41

Autosomal Dominant Spastic Paraplegia Type 41

Autosomal Dominant Spastic Paraplegia 41

Spastic Paraplegia 19, Autosomal Dominant

SPG19

Hereditary Spastic Paraplegia 19

Autosomal Dominant Spastic Paraplegia Type 19

Autosomal Dominant Spastic Paraplegia 19

Spastic Paraplegia 19

Spastic Paraplegia-19

Charcot-Marie-Tooth Disease Type 2a2a

Charcot-Marie-Tooth Disease, Type 2a2a

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2a2

Charcot-Marie-Tooth Neuronal Type 2a2

Charcot-Marie-Tooth Neuropathy Type 2a2

Cmt2a2a

Hereditary Motor And Sensory Neuropathy Iia2

Hmsn Iia2

Hmsn2a2

Spastic Paraplegia 54, Autosomal Recessive

SPG54

Hereditary Spastic Paraplegia 54

Autosomal Recessive Spastic Paraplegia Type 54

Autosomal Recessive Spastic Paraplegia 54

Paraplegia, Spastic, Type 54, Autosomal Recessive

Spastic Paraplegia 36, Autosomal Dominant

SPG36

Hereditary Spastic Paraplegia 36

Autosomal Dominant Spastic Paraplegia Type 36

Autosomal Dominant Spastic Paraplegia 36

Spastic Paraplegia 15, Autosomal Recessive

SPG15

Kjellin Syndrome

Hereditary Spastic Paraplegia 15

Spastic Paraplegia And Retinal Degeneration

Autosomal Recessive Spastic Paraplegia Type 15

Hereditary Spastic Paraparesis Type 15

Spastic Paraplegia-Retinal Degeneration Syndrome

Autosomal Recessive Spastic Paraplegia 15

Charcot-Marie-Tooth Disease, Axonal, Type 2h

CMT2H

Charcot-Marie-Tooth Disease Axonal Type 2h

Ar-Cmt2c

Autosomal Recessive Axonal Cmt4c2

Axonal Charcot-Marie-Tooth Disease With Pyramidal Involvement

Charcot-Marie-Tooth Disease Type 2h

Charcot-Marie-Tooth Disease, Axonal, With Pyramidal Features, Autosomal Recessive

Charcot-Marie-Tooth Neuropathy, Axonal, With Pyramidal Features, Autosomal Recessive

Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With Pyramidal Features

Autosomal Recessive Axonal Charcot-Marie-Tooth Neuropathy With Pyramidal Features

Charcot-Marie-Tooth Disease, Type 2h

Hereditary Spastic Paraplegia 49

Autosomal Recessive Spastic Paraplegia Type 49

Autosomal Recessive Spastic Paraplegia 49

Spg49

Paraplegia, Spastic, Type 49, Autosomal Recessive

Spastic Paraplegia 34, X-Linked

SPG34

Hereditary Spastic Paraplegia 34

X-Linked Spastic Paraplegia Type 34

X-Linked Spastic Paraplegia 34

Spastic Paraplegia 20, Autosomal Recessive

Troyer Syndrome

SPG20

Spastic Paraparesis, Childhood-Onset, With Distal Muscle Wasting

Spastic Paraplegia, Autosomal Recessive, Troyer Type

Autosomal Recessive Spastic Paraplegia Type 20

Autosomal Recessive Hereditary Spastic Paraplegia

Spastic Paraplegia 20

Cross-Mckusick Syndrome

Autosomal Recessive Spastic Paraplegia 20

Autosomal Recessive Spastic Paraplegia Troyer Type

Childhood-Onset Spastic Paraparesis With Distal Muscle Wasting

Hereditary Spastic Paraplegia 20

Spastic Paraplegia Type 20

Hereditary Spastic Paraplegia

Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome

Spastic Paraparesis Childhood-Onset With Distal Muscle Wasting

Spastic Paraplegia Autosomal Recessive Troyer Type

Trs

Spastic Paraplegia Hereditary Autosomal Recessive

Spastic Paraplegia, Hereditary

Spastic Paraplegia 18, Autosomal Recessive

SPG18

Idmdc

Hereditary Spastic Paraplegia 18

Intellectual Disability, Motor Dysfunction, And Joint Contractures

Autosomal Recessive Spastic Paraplegia Type 18

Autosomal Recessive Spastic Paraplegia 18

Intellectual Disability, Motor Dysfunction And Joint Contractures

Spastic Paraplegia 18

Intellectual Disability Motor Dysfunction And Joint Contractures

Paraplegia, Spastic, Type 18

Spastic Paraplegia 64, Autosomal Recessive

SPG64

Hereditary Spastic Paraplegia 64

Autosomal Recessive Spastic Paraplegia Type 64

Autosomal Recessive Spastic Paraplegia 64

Paraplegia, Spastic, Type 64, Autosomal Recessive

Masa Syndrome

L1 Syndrome

Crash Syndrome

X-Linked Hydrocephalus Syndrome

SPG1

Gareis-Mason Syndrome

Spastic Paraplegia 1, X-Linked

Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome

L1cam Syndrome

Spastic Paraplegia 1

Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs

Clasped Thumb And Mental Retardation

Thumb, Congenital Clasped, With Mental Retardation

Adducted Thumb With Mental Retardation

Hereditary Spastic Paraplegia 1

X-Linked Complicated Hereditary Spastic Paraplegia Type 1

X-Linked Corpus Callosum Agenesis

X-Linked Spastic Paraplegia 1

L1 Disease

X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis

Adducted Thumb With Intellectual Disability

Clasped Thumb And Intellectual Disability

Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs

Thumb Congenital Clasped With Intellectual Disability

X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome

Adducted Thumbs-Mental Retardation Syndrome

Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome

Mental Retardation-Clasped Thumb Syndrome

Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome

Spastic Paraplegia Type 1, X-Linked

MASA

Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus

Crash

Masa Syndrome

Spastic Paraplegia 26, Autosomal Recessive

SPG26

Hereditary Spastic Paraplegia 26

Autosomal Recessive Spastic Paraplegia Type 26

Gm2 Synthase Deficiency

Spastic Paraplegia 26

Autosomal Recessive Spastic Paraplegia 26

Paraplegia, Spastic, Autosomal Recessive, Type 26

Hereditary Spastic Paraplegia 35

Autosomal Recessive Spastic Paraplegia Type 35

Spg35

Autosomal Recessive Spastic Paraplegia 35

Fahn

Fatty Acid Hydroxylase-Associated Neurodegeneration

Leukodystrophy, Dysmyelinating And Spastic Paraparesis With Or Without Dystonia

Charcot-Marie-Tooth Disease, Recessive Intermediate D

Charcot-Marie-Tooth Disease Recessive Intermediate D

CMTRID

Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type D

Ri-Cmt Type D

Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, D

Spastic Paraplegia 47, Autosomal Recessive

Hereditary Spastic Paraplegia 47

SPG47

Cpsq5

Cerebral Palsy, Spastic Quadriplegic, 5, Formerly

Cpsq5, Formerly

Autosomal Recessive Spastic Paraplegia 47

Spastic Quadriplegic Cerebral Palsy 5

Cerebral Palsy, Spastic Quadriplegic 5

Dementia

Dementias

Presenile Dementia

Alzheimer Type Dementia

Alzheimer Sclerosis

Alzheimer Disease Dementia

Alzheimer Dementia

Primary Degenerative Alzheimer Type Dementia

End Stage Alzheimer'S Dementia

Alzheimer'S Type Atypical Dementia

Alzheimer Type Presenile Dementia

Early Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 2

Dementia In Alzheimer Disease With Early Onset

Early Onset Alzheimer Type Dementia, Uncomplicated

Primary Degenerative Alzheimer Type Dementia, Early Onset

Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

Alzheimer Disease Dementia With Early Onset

Presenile Sclerosis

Presenile Brain Sclerosis

Presenile Alzheimer Brain Sclerosis

Late Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 1

Dementia In Alzheimer Disease With Late Onset

Primary Degenerative Alzheimer Type Dementia, Late Onset

Sdat - [Senile Dementia, Alzheimer Type]

Alzheimer Disease Dementia With Late Onset

Late Onset Alzheimer Brain Sclerosis

Senile Alzheimer Brain Disease

Senile Alzheimer Brain Sclerosis

Senile Primary Degenerative Alzheimer Type Dementia

Senile Dementia Of The Alzheimer Type

Arteriosclerotic Dementia

Strategic-Infarct Dementia

Post Stroke Dementia

Vascular Cognitive Impairment

Vascular Dementia

Dementia Of The Lewy Body Type

Dementia With Lewy Bodies

Sdlt - [Senile Dementia Of The Lewy Body Type]

Senile Dementia Of The Lewy Body Type

Alcohol-Related Dementia

Alcoholic Dementia Nos

Alcohol-Induced Dementia

Alcoholic Brain Syndrome

Chronic Alcoholic Brain Syndrome

Alcohol Dementia

Late Onset Alcoholic Psychosis

Residual And Late-Onset Alcohol-Induced Psychotic Disorder

Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

Late-Onset Psychoactive Substance-Induced Psychotic Disorder

Inhalant Dementia

Volatile Solvents Dementia

Dementia In Paralysis Agitans

Pdd - [Parkinson Disease Dementia]

Dementia Syndrome Of Parkinson Disease

Dementia In Parkinson Disease

Parkinson Related Dementia

Dementia In Huntington Chorea

Hiv - [Human Immunodeficiency Virus] Dementia

Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

Aids Related Dementia

Dementia Due To Niacin Deficiency

Hereditary Spastic Paraplegia 30

Autosomal Spastic Paraplegia Type 30

Spg30

Autosomal Recessive Spastic Paraplegia 30

Spastic Paraplegia 13, Autosomal Dominant

SPG13

Hereditary Spastic Paraplegia 13

Autosomal Dominant Spastic Paraplegia 13

Spastic Paraplegia 13

Autosomal Dominant Spastic Paraplegia Type 13

Spastic Paraplegia-13

Paraplegia, Spastic, Type 13

Spastic Paraplegia 61, Autosomal Recessive

SPG61

Hereditary Spastic Paraplegia 61

Autosomal Recessive Spastic Paraplegia Type 61

Autosomal Recessive Spastic Paraplegia 61

Paraplegia, Spastic, Type 61, Autosomal Recessive

Neuropathy, Hereditary Sensory, Type Iic

HSN2C

Hereditary Sensory Neuropathy Type 2c

Hereditary Sensory Neuropathy Type Iic

Neuropathy, Hereditary Sensory, Type 2c

Neuropathy, Hereditary Sensory, 2c

Hsn Iice

Neuropathy, Sensory, Hereditary, Type Iic

Spastic Paraplegia 45, Autosomal Recessive

SPG45

Hereditary Spastic Paraplegia 45

Autosomal Recessive Spastic Paraplegia Type 45

Autosomal Recessive Spastic Paraplegia Type 65

Spg65

Autosomal Recessive Spastic Paraplegia 45

Paraplegia, Spastic, Type 45, Autosomal Recessive

Hyperuricemia, Hprt-Related

Hprt-Related Gout

Kelley-Seegmiller Syndrome

Hprt Deficiency, Partial

HRH

Gout, Hprt-Related

Hprt1 Deficiency, Partial

Hrpt-Related Hyperuricemia

Hprt Deficiency, Grade I

Hprt Partial Deficiency

Hprt-Related Hyperuricemia

Hprt1 Partial Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase 1 Partial Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade I

Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency

Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial

Hyperuricemia, Hrpt-Related

Spastic Paraplegia 2, X-Linked

SPG2

Hereditary Spastic Paraplegia 2

Sppx2

Spastic Paraplegia Type 2

Spastic Paraplegia 2

Hereditary X-Linked Recessive Spastic Paraplegia

X-Linked Spastic Paraplegia 2

X Linked Recessive Hereditary Spastic Paraplegia

Spastic Gait Type 2

Spastic Paraparesis Type 2

X-Linked Spastic Paraplegia Type 2

Spastic Paraplegia Type 2, X-Linked

Spastic Paraplegia-2

Paraplegia, Spastic, Type 2

Spastic Paraplegia 14, Autosomal Recessive

SPG14

Hereditary Spastic Paraplegia 14

Autosomal Recessive Spastic Paraplegia Type 14

Autosomal Recessive Spastic Paraplegia 14

Spastic Paraplegia 14

Spastic Paraplegia 73, Autosomal Dominant

SPG73

Hereditary Spastic Paraplegia 73

Autosomal Dominant Spastic Paraplegia Type 73

Autosomal Dominant Spastic Paraplegia 73

Paraplegia, Spastic, Autosomal Dominant, Type 73

Spastic Paraplegia 78, Autosomal Recessive

SPG78

Autosomal Recessive Spastic Paraplegia Type 78

Hereditary Spastic Paraplegia 78

Spastic Paraplegia 78 Autosomal Recessive

Doid:0112348

Charcot-Marie-Tooth Disease, Axonal, Type 2t

CMT2T

Charcot-Marie-Tooth Disease Axonal Type 2t

Charcot-Marie-Tooth Neuropathy, Type 2t

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2t

Ar-Cmt2t

Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2t

Mme-Related Autosomal Dominant Charcot Marie Tooth Disease Type 2

Charcot-Marie-Tooth Neuropathy Type 2t

Charcot-Marie-Tooth Disease Type 2t

Mme-Related Autosomal Dominant Cmt2

Mme-Related Autosomal Dominant Hereditary Motor And Sensory Neuropathy Type 2

Charcot-Marie-Tooth Disease 2t

Charcot-Marie-Tooth Neuropathy Axonal Type 2t

Agenesis Of The Corpus Callosum With Peripheral Neuropathy

Andermann Syndrome

Charlevoix Disease

ACCPN

Polyneuropathy, Sensorimotor, With Or Without Agenesis Of The Corpus Callosum

Corpus Callosum, Agenesis Of, With Neuronopathy

Corpus Callosum Agenesis-Neuronopathy Syndrome

Agenesis Of Corpus Callosum With Neuronopathy

Agenesis Of Corpus Callosum With Peripheral Neuropathy

Agenesis Of Corpus Callosum With Polyneuropathy

Corpus Callosum Agenesis Neuronopathy

Hmsn/Acc

Hereditary Motor And Sensory Neuropathy With Agenesis Of The Corpus Callosum

Agenesis Of The Corpus Callosum, With Peripheral Neuropathy

Andermann'S Syndrome

Agenesis, Corpus Callosum, With Peripheral Neuropathy

Spastic Paraplegia 10, Autosomal Dominant

SPG10

Hereditary Spastic Paraplegia 10

Autosomal Dominant Spastic Paraplegia Type 10

Spastic Paraplegia 10

Spastic Paraplegia 10 With Or Without Peripheral Neuropathy

Autosomal Dominant Spastic Paraplegia 10

Autosomal Dominant Spastic Paraplegia

Spastic Paraplegia, Autosomal Dominant

Paraplegia, Spastic, Autosomal Dominant, Type 10

Charcot-Marie-Tooth Disease, Axonal, Type 2b2

Charcot-Marie-Tooth Disease Type 2b2

CMT2B2

Arcmt2b

Charcot-Marie-Tooth Disease, Type 2b2

Ar-Cmt2b2

Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b2

Autosomal Recessive Axonal Cmt4c3

Charcot-Marie-Tooth Disease Neuronal Type 2b2

Charcot-Marie-Tooth Neuropathy Type 2b2

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b2

Charcot-Marie-Tooth Disease, Neuronal, Type 2b2

Charcot-Marie-Tooth Neuropathy, Type 2b2

Charcot-Marie-Tooth Disease 2b2

Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B2

Charcot-Marie-Tooth Disease Axonal Type 2b2

Spastic Paraplegia 42, Autosomal Dominant

SPG42

Hereditary Spastic Paraplegia 42

Autosomal Dominant Spastic Paraplegia Type 42

Autosomal Dominant Spastic Paraplegia 42

Paraplegia, Spastic, Type 42, Autosomal Dominant

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2

CMT2E

CMT2S

CMT2Y

Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease Axonal Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2s

Charcot-Marie-Tooth Disease, Type 2e

Hereditary Motor And Sensory Neuropathy Type 2

Charcot-Marie-Tooth Neuropathy, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2y

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

Charcot-Marie-Tooth Neuropathy, Type 2y

Charcot-Marie-Tooth Disease, Type 2y

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Neuropathy Type 2e

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

Cmt2 Due To Vcp Mutation

Charcot-Marie-Tooth Disease Type 2s

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

Cmt2

Charcot-Marie-Tooth Neuropathy, Type 2e

Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

Hereditary Motor And Sensory Neuropathy Okinawa Type

Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

Charcot-Marie-Tooth Neuropathy Type 2y

Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

Charcot-Marie-Tooth Neuropathy Type 2s

Charcot-Marie-Tooth Type 2

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease 2e

Charcot-Marie-Tooth Disease Axonal Type 2e

Charcot-Marie-Tooth Disease Neuronal Type 2e

Charcot-Marie-Tooth Disease 2s

Charcot-Marie-Tooth Neuropathy Axonal Type 2s

Charcot-Marie-Tooth Disease 2y

Charcot-Marie-Tooth Disease, Type 2

Hereditary Motor And Sensory-Neuropathy Type Ii

Spastic Paraplegia 17, Autosomal Dominant

Silver Syndrome

SPG17

Silver Spastic Paraplegia Syndrome

Spastic Paraplegia With Amyotrophy Of Hands And Feet

Hereditary Spastic Paraplegia 17

Autosomal Dominant Spastic Paraplegia Type 17

Spastic Paraplegia 17

Spastic Paraplegia-Amyotrophy Of Hands And Feet

Autosomal Dominant Spastic Paraplegia 17

Dhmn5b

Distal Hereditary Motor Neuropathy Type 5b

Paraplegia, Spastic, Autosomal Dominant, Type 17

Russell-Silver Syndrome

Neuronopathy, Distal Hereditary Motor, Type Vb

Spastic Ataxia

Spax

Ataxia, Spastic

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Canis familiaris SPG21 VGNC VGNC:46735
Rattus norvegicus SPG21 RGD RGD:1359141
Macaca mulatta SPG21 VGNC VGNC:77970
Mus musculus SPG21 MGD MGI:106403
Felis catus SPG21 VGNC VGNC:65634
Bos taurus SPG21 VGNC VGNC:35208
Others SPG21 NCBI