LMBR1 - limb development membrane protein 1 Gene

中文名称：肢体发育膜蛋白 1

种属: Homo sapiens

同用名: LSS; TPT; ZRS; ACHP; PPD2; THYP; DIF14; TPTPS; C7orf2

基因 ID: 64327 | 基因类型: protein coding

关于 LMBR1

Cytogenetic location: 7q36.3 Genomic coordinates (GRCh38): 7:156,669,012-156,893,183 (from NCBI)

This gene has 20 transcripts (splice variants), 205 orthologues, 1 paralogue and is associated with 11 phenotypes. Ubiquitous expression in testis (RPKM 9.4), adrenal (RPKM 8.4) and 25 other tissues.

功能概要

该基因编码 LMBR1 样膜蛋白家族的成员。该蛋白质家族的另一个成员已被证明是脂质运载蛋白跨膜受体。 sonic Hedgehog 基因的一个高度保守的顺式作用调节模块位于该基因的一个内含子内。因此，该基因区域的破坏可以改变音速刺猬的表达并影响肢体模式，但尚不清楚该基因是否直接在肢体发育中发挥作用。该基因区域的突变和染色体缺失和重排与手足畸形和轴前多指畸形有关，这可能是由于声波刺猬表达改变所致。[RefSeq 提供，2008 年 7 月]

This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic Hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic Hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic Hedgehog expression. [provided by RefSeq, Jul 2008]

LMBR1 基因产物(12)

mRNA	Protein	Name
NM_001350953.2	NP_001337882.1	limb region 1 protein homolog isoform a
NM_001350954.2	NP_001337883.1	limb region 1 protein homolog isoform c
NM_001350955.2	NP_001337884.1	limb region 1 protein homolog isoform d precursor
NM_001350956.2	NP_001337885.1	limb region 1 protein homolog isoform d precursor
NM_001350957.2	NP_001337886.1	limb region 1 protein homolog isoform e
NM_001350958.2	NP_001337887.1	limb region 1 protein homolog isoform f precursor
NM_001363409.2	NP_001350338.1	limb region 1 protein homolog isoform g
NM_001363410.2	NP_001350339.1	limb region 1 protein homolog isoform h
NM_001363411.2	NP_001350340.1	limb region 1 protein homolog isoform i
NM_001363412.2	NP_001350341.1	limb region 1 protein homolog isoform j
NM_001363413.2	NP_001350342.1	limb region 1 protein homolog isoform d precursor
NM_022458.4	NP_071903.2	limb region 1 protein homolog isoform b

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

LMBR1 蛋白结构

LMBR1

0
100
200
300
400
490 a.a.

蛋白主名

其他名称

limb region 1 protein homolog

differentiation-related gene 14 protein

关联疾病

疾病名称

别名

Acheiropody

Acheiropodia	ACHP
Acheiropody, Brazilian Type	Horn-Kolb Syndrome
Horn Kolb Syndrome	Acheiropody Brazilian Type

Laurin-Sandrow Syndrome

Sandrow Syndrome	Tetramelic Mirror-Image Polydactyly
Mirror-Image Polydactyly	Mirror Hands And Feet With Nasal Defects
Tmip	LSS
Mip	Mirror Hands And Feets-Nasal Defects Syndrome
Fibula And Ulna, Duplication Of, With Absence Of Tibia And Radius	Miccor Hands And Feet With Nasal Defects
Mipduplication Of Fibuland Ulna With Absence Of Tibia And Radius	Fibula Ulna Duplication Tibia Radius Absence
Laurin Sandrow Syndrome	Duplication Of Fibula And Ulna With Absence Of Tibia And Radius
Segmental Laurin-Sandrow Syndrome	Laurin-Sandrow Syndrome, Segmental

Syndactyly, Type Iv

Syndactyly Type 4	Polysyndactyly, Haas Type
SDTY4	Haas Type Syndactyly
Sd4	Polysyndactyly Type Haas
Syndactyly 4	Polysyndactyly Haas Type
Syndactyly Type Iv

Tibia, Hypoplasia Or Aplasia Of, With Polydactyly

Hypoplastic Or Aplastic Tibia With Polydactyly	Absence Of Tibia With Polydactyly
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	THYP
Tibial Hemimelia-Polydactyly-Triphalangeal Thumbs With Fibular Dimelia	Absent Tibia-Polydactyly Syndrome
Werner Mesomelic Syndrome	Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Polydactyly With Absent Tibia	Werner Mesomelic Spectrum
Hypoplasia Or Aplasia Of Tibia With Polydactyly	Wms
Tibia, Hypoplasia Of, With Polydactyly

Polydactyly, Preaxial Ii

PPD2	Polydactyly Of A Triphalangeal Thumb
Polydactyly, Preaxial Type Ii	Triphalangeal Thumb, Type I
Preaxial Polydactyly Type 2	Triphalangeal Thumb-Polysyndactyly Syndrome
Polydactyly Of Triphalangeal Thumb	Triphalangeal Thumb-Polydactyly Syndrome
Preaxial Polydactyly 2	TPTPS
Polydactyly, Preaxial, Type Ii

Triphalangeal Thumb With Polysyndactyly

Triphalangeal Thumb-Polysyndactyly Syndrome	Tpt-Ps Syndrome
TPTPS

Radial Hemimelia

Radial Clubhand	Congenital Longitudinal Deficiency Of The Radius
Radial Longitidinal Meromelia	Radial Ray Agenesis
Radial Club Hand	Longitudinal Reduction Defect Of Radius
Agenesis Of Radial Ray	Agenesis Of Radius
Congenital Absence Of Radius	Congenital Absence Of Radius With Or Without Absence Of Some Distal Elements
Congenital Absence Of Radius With Or Without Absence Of Some, But Not All, Distal Elements	Congenital Club Hand
Congenital Clubhand	Congenital Short Radius
Manus Vara	Talipomanus
Total Radial Absence

Polydactyly

Non-Syndromic Polydactyly	Polydactyly, Postaxial
Postaxial Polydactyly	Supernumerary Digit
Extra Digits	Hyperdactyly
Polydactylia	Polydactylism
Supernumerary Digits

Acropectoral Syndrome

Acrp Syndrome	ACRPS
Dundar Acropectoral Syndrome	Syndactyly, Preaxial Polydactyly, And Sternal Deformity
Acro-Pectoral Syndrome	Syndactyly, Preaxial Polydactyly And Sternal Deformity
Syndactyly-Preaxial Polydactyly-Sternal Deformity Syndrome

Syndactyly, Type Iii

Syndactyly Type 3	SDTY3
Ring And Little Finger Syndactyly	Syndactyly Of Fingers Iv And V
Syndactyly Of Fingers 4 And 5	Ringand Little Finger Syndactyly
Syndactyly Of Fingers Four And Five	Syndactyly Of The Ring And Little Finger
Sd3	Syndactyly 3
Syndactyly Type Iii	4-5 Finger Syndactyly
Syndactyly, Type 3

Chromosome 2q35 Duplication Syndrome

Syndactyly	Syndactyly Type 1
Sdty1	Zygodactyly
Syndactyly, Type I	Sd1
Syndactyly, Type 1, With Or Without Craniosynostosis	Symphalangism
Non-Syndromic Syndactyly	Symphalangy
Webbing Of Digits	Syndactyly, Type 1

Metacarpal 4-5 Fusion

Syndactyly Type 8	MF4
Fusion Of Metacarpals 4 And 5	Metacarpals 4 And 5 Fusion
Metacarpal 4 5 Fusion

Acquired Color Blindness

Acquired Color Vision Deficiencies	Acquired Color Vision Deficiency
Acquired Colour Blindness	Acquired Colour Vision Deficiencies
Acquired Colour Vision Deficiency

Coenzyme Q10 Deficiency, Primary, 2

Deafness-Encephaloneuropathy-Obesity-Valvulopathy Syndrome	COQ10D2
Primary Coenzyme Q10 Deficiency 2	Hearing Loss-Encephaloneuropathy-Obesity-Valvulopathy Syndrome
Coenzyme Q10 Deficiency, Primary, Type 2

Greig Cephalopolysyndactyly Syndrome

GCPS	Polysyndactyly With Peculiar Skull Shape
Polysyndactyly With Peculiars Skull Shape	Greig Syndrome
Cephalopolysyndactyly Syndrome	Greig Cephalo-Poly-Syndactyly Syndrome
Cephalopolysyndactyly, Greig Syndrome	Aarskog Syndrome

Spondyloepimetaphyseal Dysplasia, X-Linked

X-Linked Spondyloepimetaphyseal Dysplasia	SEMDX
Semd, X-Linked	Semd X-Linked
Spondyloepimetaphyseal Dysplasia X-Linked	Spondylo-Epimetaphyseal Dysplasia

Cleft Palate, Cardiac Defects, And Mental Retardation

Cardiac Malformation, Cleft Lip/Palate, Microcephaly, And Digital Anomalies	CPCMR
Cleft Palate, Cardiac Defects, And Intellectual Disabillity	Cleft Palate, Cardiac Defects, And Intellectual Disability
Cardiac Malformation, Cleft Lip-Palate, Microcephaly And Digital Anomalies

Synpolydactyly

Syndactyly Type 2	Syndactyly, Type 2
Spd

Brachydactyly-Syndactyly Syndrome

BDSD	Brachydactyly-Syndactyly-Oligodactyly Syndrome
Brachydactyly-Syndactyly, Zhao Type	BDSDO

Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly

Fuhrmann Syndrome	Bowing Of The Femurs, Aplasia Or Hypoplasia Of The Fibula, And Digital Anomalies
Fibular Hypoplasia Or Aplasia-Femoral Bowing-Oligodactyly Syndrome	Fuhrmann-Rieger-De Sousa Syndrome
FUHRS	Fibular Aplasia
Hypoplasia Femoral Bowing And Poly- Syn- And Oligodactyly

Adie Pupil

Adie Syndrome	Holmes-Adie Syndrome
Poorly Reacting Pupils	Adie'S Pupil Or Syndrome
Adie'S Pupil Syndrome	Adie'S Syndrome
Adie'S Pupil	Has
Tonic, Sluggishly Reacting Pupil And Hypoactive Or Absent Tendon Reflexes	Tonic Pupil-Tendon Areflexia Syndrome
ADIEP	Tonic Pupil

Synostosis

Currarino Syndrome

Currarino Triad	Partial Sacral Agenesis With Intact First Sacral Vertebra, Presacral Mass And Anorectal Malformation
CURRAS

Chromosomal Duplication Syndrome

Acrocallosal Syndrome

ACLS	Schinzel Acrocallosal Syndrome
Joubert Syndrome 12	Schinzel Syndrome 1
Acrocallosal Syndrome, Schinzel Type	Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum
Acs	Absence Of Corpus Callosum With Unusual Facial Appearance, Mental Deficiency, Duplication Of The Halluces And Polydactyly
Hallux Duplication Postaxial Polydactyly And Absence Of Corpus Callosum	JBTS12
Acrocallosal Syndrome

Dysostosis

Dysostoses

Pallister-Hall Syndrome

PHS	Hypothalamic Hamartomas
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly	Hypothalamic Hamartoblastoma Syndrome
Hamartoma Of The Hypothalamus	Pallister Hall Syndrome
Hall-Pallister Syndrome	Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly
Hamartoma, Hypothalamic

Bone Development Disease

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS07706	LMBR1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS07707	LMBR1L Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	LMBR1	MGD	MGI:1861746
Canis familiaris	LMBR1	VGNC	VGNC:42710
Rattus norvegicus	LMBR1	RGD	RGD:1563910
Felis catus	LMBR1	VGNC	VGNC:80610
Macaca mulatta	LMBR1	VGNC	VGNC:74276
Bos taurus	LMBR1	VGNC	VGNC:30922

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