GLDN - gliomedin Gene

中文名称：胶质蛋白

种属: Homo sapiens

同用名: CLOM; COLM; CRGL2; CRG-L2; LCCS11; UNC-112; UNC-122

基因 ID: 342035 | 基因类型: protein coding

关于 GLDN

Cytogenetic location: 15q21.2 Genomic coordinates (GRCh38): 15:51,341,655-51,413,365 (from NCBI)

This gene has 10 transcripts (splice variants), 250 orthologues, 9 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 4.5), fat (RPKM 3.3) and 12 other tissues.

功能概要

该基因编码的蛋白质包含嗅觉调节素样和胶原样结构域。编码的蛋白质以跨膜和分泌形式存在，促进周围神经系统中朗飞结的形成。该基因的突变会导致人类患者出现一种致命的先天性挛缩综合征。已在患有多灶性运动神经病的血清型患者中鉴定出编码蛋白的自身抗体。[RefSeq 提供，2017 年 5 月]

This gene encodes a protein that contains olfactomedin-like and collagen-like domains. The encoded protein, which exists in both transmembrane and secreted forms, promotes formation of the nodes of Ranvier in the peripheral nervous system. Mutations in this gene cause a form of lethal congenital contracture syndrome in human patients. Autoantibodies to the encoded protein have been identified in sera form patients with multifocal motor neuropathy. [provided by RefSeq, May 2017]

GLDN 基因产物(2)

mRNA	Protein	Name
NM_001330297.2	NP_001317226.1	gliomedin isoform 2
NM_181789.4	NP_861454.2	gliomedin isoform 1 precursor

基因本体论

细胞组分

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cell surface	IDA IDA: 通过直接分析推断	27616481	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

GLDN 蛋白结构

Collagen

OLF

0
100
200
300
400
500
551 a.a.

蛋白主名

其他名称

gliomedin

collomin

重组 GLDN 蛋白

目录号	产品名	蛋白编号	纯度
HY-P76363	Gliomedin Protein, Human (HEK293, Fc, solution)	AAQ88511.1 (M1-Q427)	≥95%
HY-P76363A	Gliomedin Protein, Human (HEK293, N-hFc)	Q6ZMI3-2 (M1-Q427)	≥95%

关联疾病

疾病名称

别名

Lethal Congenital Contracture Syndrome 11

LCCS11

Lethal Congenital Contracture Arthrogryposis-11

Polyhydramnios

Lethal Congenital Contracture Syndrome

Lccs	Lethal Congenital Contracture Syndrome 1

Multifocal Motor Neuropathy

Mmn	Mmncb
Multifocal Motor Neuropathy With Conduction Block

Congenital Contractures

Congenital Contracture

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita	Arthrogryposis
Congenital Multiple Arthrogryposis	Congenital Arthromyodysplasia
Fibrous Ankylosis Of Multiple Joints	Guerin-Stern Syndrome
Guérin-Stern Syndrome	Myodystrophia Fetalis Deformans
Otto Syndrome	Rocher-Sheldon Syndrome
Rossi Syndrome	Amc
Multiple Congenital Arthrogryposis	Arthrogryposis Syndrome
Arthrogryposis, Distal	Distal Arthrogryposis Syndrome
Freeman-Sheldon Syndrome	Arthrogryposis, Distal, Type 2b
Congenital Multiplex Arthrogryposis	Amyoplasia Congenita
Congenital Amyoplasia	Amc - [Arthrogryposis Multiplex Congenita]

Fetal Akinesia Deformation Sequence 1

Fetal Akinesia Deformation Sequence	Fads
Fetal Akinesia Sequence	FADS1
Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia	Pena-Shokeir Syndrome Type 1
Fetal Akinesia Deformation Sequence Syndrome	Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia	Pena-Shokeir Syndrome, Type I
Foetal Akinesia Deformation Sequence Syndrome	Foetal Akinesia Sequence
Fetal Akinesia Deformation Sequence Syndrome 1	Pena-Shokeir Syndrome, Type 1
Pena Shokeir Syndrome, Type 1	Akinesia, Fetal, Deformation Sequence
Akinesia, Fetal, Deformation Sequence, Type 1	Pena-Shokeir Syndrome Type I

Autoimmune Neuropathy

Lethal Congenital Contracture Syndrome 2

LCCS2	Lethal Congenital Contractural Syndrome 2
Multiple Contracture Syndrome, Israeli-Bedouin Type	Multiple Contracture Syndrome, Israeli Bedouin Type A
Multiple Contracture Syndrome, Israeli Bedouin Type	Lethal Congenital Contracture Syndrome Type 2
Israeli Bedouin Multiple Contracture Syndrome Type A	Contracture Syndrome, Lethal, Congenital, Type 2

Demyelinating Polyneuropathy

Peripheral Demyelinating Neuropathy

Demyelinating Peripheral Neuropathy

Arthrogryposis, Distal, Type 5

Oculomelic Amyoplasia	Distal Arthrogryposis Type 5
Distal Arthrogryposis Type Iib	DA5
Arthrogryposis With Oculomotor Limitation And Electroretinal Abnormalities	Daiib
Distal Arthrogryposis Type 2b	Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Distal Arthrogryposis With Ophthalmoplegia	Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome
Arthrogryposis, Distal, Type Iib	Da2b
Freeman-Sheldon Syndrome Variant	Sheldon-Hall Syndrome
Arthogryposis With Oculomotor Limitation And Electroretinal Abnormalities	Arthrogryposis Ophthalmoplegia Retinopathy
Arthrogryposis, Distal, 5	Arthrogryposis, Distal, Type 2b

Chronic Inflammatory Demyelinating Polyradiculoneuropathy

Chronic Inflammatory Demyelinating Polyneuropathy	Cidp
Polyradiculoneuropathy Chronic Inflammatory Demyelinating	Polyradiculoneuropathy, Chronic Inflammatory Demyelinating

Hypotrichosis 8

HYPT8	Lah3
Hypotrichosis, Localized, Autosomal Recessive 3	Woolly Hair, Autosomal Recessive 1, With Or Without Hypotrichosis
Autosomal Recessive Woolly Hair 1, With Or Without Hypotrichosis	Hypotrichosis Localized Autosomal Recessive 3
Woolly Hair Autosomal Recessive 1 With Or Without Hypotrichosis	ARWH1
Hypotrichosis, Type 8

Multiple Pterygium Syndrome, Escobar Variant

Multiple Pterygium Syndrome	Pterygium
Escobar Syndrome	EVMPS
Pterygium Syndrome	Autosomal Recessive Multiple Pterygium Syndrome
Pterygium Colli Syndrome	Pterygium Universale
Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome	Escobar Variant Multiple Pterygium Syndrome
Multiple Pterygium Syndrome, Nonlethal Type	Surfer'S Eye
Multiple Pterygium Syndrome Escobar Type	Multiple Pterygium Syndrome Nonlethal Type
Familial Pterygium Syndrome	Pterygium Colli
Multiple Pterygium Syndrome, Non-Lethal Type	Nonlethal Type Multiple Pterygium Syndrome
Pterygium Syndrome, Multiple, Escobar Type	Pterygium Of Eye
Web Eye

Polyradiculopathy

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4	Charcot-Marie-Tooth Disease Type 4e
Hereditary Motor And Sensory Neuropathy	Cmt4e
CHN1	Hypomyelinating Neuropathy, Congenital, 1
Charcot-Marie-Tooth Neuropathy Type 4e	Neuropathy, Congenital Hypomyelinating, 1
Ar-Cmt1	Autosomal Recessive Demyelinating Charcot-Marie-Tooth
Cmt4	Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
Hypomyelination, Severe Congenital	Charcot-Marie-Tooth Disease, Type 4e
Charcot-Marie-Tooth Neuropathy, Type 4e	Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
Autosomal Recessive Congenital Hypomyelinating Neuropathy	Congenital Amyelinating Neuropathy
Congenital Hypomyelinating Neuropathy Autosomal Recessive	Neuropathy, Congenital Hypomyelinating Or Amyelinating
Severe Congenital Hypomyelination	Hereditary Sensory Motor Neuropathy
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive	Neuropathy, Hypomyelinating, Congenital, Type 1
Neuropathy, Motor And Sensory, Hereditary	Congenital Hypomyelinating Neuropathy
Hereditary Motor And Sensory Neuropathies	Hereditary Sensorimotor Neuropathy
Hmsn - [Hereditary Motor And Sensory Neuropathy]	Hsmn - [Hereditary Sensory And Motor Neuropathy]
Hereditary Motor And Sensory Neuropathy, Types I-Iv

Aromatase Excess Syndrome

AEXS	Increased Aromatase Activity
Familial Hyperestrogenism	Hereditary Prepubertal Gynecomastia
Aromatase Activity, Increased	Familial Gynecomastia Due To Increased Aromatase Activity
Hereditary Gynecomastia	Gynecomastia, Familial
Familial Gynecomastia

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-RS05469	GLDN 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	GLDN	MGD	MGI:2388361
Macaca mulatta	GLDN	VGNC	VGNC:73032
Rattus norvegicus	GLDN	RGD	RGD:727879
Canis familiaris	GLDN	VGNC	VGNC:41253
Felis catus	GLDN	VGNC	VGNC:62575
Bos taurus	GLDN	VGNC	VGNC:29396
Others	GLDN	NCBI

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