GPM6B - glycoprotein M6B Gene

中文名称：糖蛋白 M6B

种属: Homo sapiens

同用名: M6B

基因 ID: 2824 | 基因类型: protein coding

关于 GPM6B

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:13,770,939-13,938,638 (from NCBI)

This gene has 11 transcripts (splice variants), 287 orthologues and 2 paralogues. Biased expression in brain (RPKM 225.8) and prostate (RPKM 7.6).

功能概要

该基因编码属于蛋白脂质蛋白家族的膜糖蛋白。蛋白脂质蛋白家族成员在大多数大脑区域都有表达，并且被认为参与细胞管家功能，例如膜运输和细胞间通讯。这种蛋白质也可能参与成骨细胞分化。交替剪接导致多个转录本变体。该基因的假基因位于 Y 和 22 号染色体上。[RefSeq 提供，2016 年 1 月]

This gene encodes a membrane glycoprotein that belongs to the proteolipid protein family. Proteolipid protein family members are expressed in most brain regions and are thought to be involved in cellular housekeeping functions such as membrane trafficking and cell-to-cell communication. This protein may also be involved in osteoblast differentiation. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes Y and 22. [provided by RefSeq, Jan 2016]

GPM6B 基因产物(5)

mRNA	Protein	Name
NM_001001994.3	NP_001001994.1	neuronal membrane glycoprotein M6-b isoform 4
NM_001001995.3	NP_001001995.1	neuronal membrane glycoprotein M6-b isoform 1
NM_001001996.3	NP_001001996.1	neuronal membrane glycoprotein M6-b isoform 2
NM_001318729.2	NP_001305658.1	neuronal membrane glycoprotein M6-b isoform 5
NM_005278.5	NP_005269.1	neuronal membrane glycoprotein M6-b isoform 3

GPM6B 蛋白结构

Myelin_PLP

0
100
200
265 a.a.

蛋白主名

其他名称

neuronal membrane glycoprotein M6-b

protolipid M6B

关联疾病

疾病名称

别名

Subleukemic Leukemia

Aleukemic Leukemia Cutis

Leukemia Subleukemic

Acute Erythroid Leukemia

Acute Erythroleukemia	Di Guglielmo'S Syndrome
Aml M6	Acute Myeloid Leukemia Fab-M6
Acute Myeloid Leukemia M6	Erythroleukemia
Aml-M6	Acute Erythroleukemia M6a Subtype
Acute Erythroleukemia M6b Subtype	Di Guglielmo Syndrome
Acute Myeloid Leukemia, M6 Type	Acute Erythroblastic Leukemia
Acute Erythroleukemia - M6a Subtype	Acute Erythroleukemia - M6b Subtype
Acute Erythraemia And Erythroleukaemia	Acute Erythroid Leukaemia Without Mention Of Remission
Erythraemia	Erythraemic Myelosis
Erythroleukaemia	Acute Erythraemic Myelosis
Acute Erythraemia

Non-Syndromic X-Linked Intellectual Disability 1

Mrx1	Mrx18
Mrx78	X-Linked Mental Retardation 1/78
X-Linked Mental Retardation 18

Pelizaeus-Merzbacher Disease

PMD	HLD1
Pelizaeus-Merzbacher Brain Sclerosis	Leukodystrophy, Hypomyelinating, 1
Diffuse Familial Brain Sclerosis	Pelizaeus Merzbacher Brain Sclerosis
Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type	Cockayne-Pelizaeus-Merzbacher Disease
Hypomyelinating Leukodystrophy 1	Leukodystrophy, Sudanophilic
Pelizaeus Merzbacher Disease	Hypomyelinating Leukodystrophy, 1
Sudanophilic Leukodystrophy	Pelizaeus-Merzbacher Disease, Connatal Form
Connatal Pmd	Pelizaeus-Merzbacher Disease Type Ii
Severe Pmd	Null Syndrome
Plp1 Null Syndrome	Pelizaeus-Merzbacher Disease, Null Syndrome
Brain Sclerosis Diffuse Familial	Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type
Leukodystrophy Hypomyelinating 1	Diffuse Cerebral Sclerosis Of Schilder

Rett Syndrome

Atypical Rett Syndrome	RTT
Rett Disorder	Rts
Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use	Rett Syndrome, Preserved Speech Variant
Rett Syndrome, Atypical	Rett'S Disorder
Rett Syndrome Variant	Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
Cerebroatrophic Hyperammonemia	Rett Like Syndrome
Rett'S Syndrome	Atypical Rtt
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use	Rett Syndrome Preserved Speech Variant
Rett Syndrome Zappella Variant	Rett Syndrome, Zappella Variant

Hypomyelinating Leukodystrophy

Hld	Leukodystrophy, Hypomyelinating

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-RS05644	GPM6B 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	GPM6B	MGD	MGI:107672
Bos taurus	GPM6B	VGNC	VGNC:29537
Canis familiaris	GPM6B	VGNC	VGNC:41386
Felis catus	GPM6B	VGNC	VGNC:67412
Rattus norvegicus	GPM6B	RGD	RGD:620580
Macaca mulatta	GPM6B	VGNC	VGNC:73122

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