1. Gene
  2. SLC25A17 - solute carrier family 25 member 17 Gene

SLC25A17 - solute carrier family 25 member 17 Gene

中文名称:溶质载体家族 25 成员 17

种属: Homo sapiens

同用名: PMP34

基因 ID: 10478 | 基因类型: protein coding

关于 SLC25A17

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:40,769,630-40,819,346 (from NCBI)

This gene has 17 transcripts (splice variants), 200 orthologues and 49 paralogues. Ubiquitous expression in ovary (RPKM 10.5), thyroid (RPKM 8.4) and 25 other tissues.

功能概要

该基因编码属于线粒体溶质载体家族的过氧化物酶体膜蛋白。它在肝脏中表达,并可能参与运输。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 9 月]

This gene encodes a peroxisomal membrane protein that belongs to the family of mitochondrial solute carriers. It is expressed in the liver, and is likely involved in transport. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

SLC25A17 基因产物(3)

mRNA Protein Name
NM_001282726.2 NP_001269655.1 peroxisomal membrane protein PMP34 isoform 2
NM_001282727.2 NP_001269656.1 peroxisomal membrane protein PMP34 isoform 3
NM_006358.4 NP_006349.1 peroxisomal membrane protein PMP34 isoform 1

SLC25A17 蛋白结构

Mito_carr

Mito_carr: Mitochondrial carrier protein (10 - 95)

Mito_carr

Mito_carr: Mitochondrial carrier protein (99 - 196)

Mito_carr

Mito_carr: Mitochondrial carrier protein (201 - 292)

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

peroxisomal membrane protein PMP34

solute carrier family 25 (mitochondrial carrier

关联疾病

疾病名称 别名
Peroxisomal Disease

Peroxisomal Disorder

Peroxisomal Disorders

Peroxisomal Defects

Adrenoleukodystrophy

X-Linked Adrenoleukodystrophy

ALD

Siemerling-Creutzfeldt Disease

X-Ald

X-Linked Cerebral Adrenoleukodystrophy

Bronze Schilder Disease

Melanodermic Leukodystrophy

Addison Disease And Cerebral Sclerosis

Adrenomyeloneuropathy, Adult

Diffuse Sclerosis

X-Cald

Adrenomyeloneuropathy

Encephalitis Periaxialis Concentrica

Encephalitis Periaxialis, Schilder'S

Sudanophilic Cerebral Sclerosis

Ald Childhood Cerebral Form

Adrenoleukodystrophy X-Linked Cerebral Form

Adrenoleukodystrophy Childhood Cerebral Form

Childhood Cerebral Ald

Schilder Disease

X-Linked Ald

Adrenoleukodystrophy, X-Linked

Amn

Diffuse Cerebral Sclerosis Of Schilder

Systemic Scleroderma

Balo'S Concentric Sclerosis

Ald - [Adrenoleukodystrophy]

Addison-Schilder

Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Retinal Dystrophy With Leukodystrophy

RDLKD

Acbd5 Deficiency

Dystrophy, Retinal, With Leukodystrophy

Rhizomelic Chondrodysplasia Punctata

Chondrodysplasia Punctata, Rhizomelic

Rcdp

Chondrodysplasia Punctata, Rhizomelic Form

Rcp

Chondrodysplasia Punctata Rhizomelic

Bile Acid Synthesis Defect, Congenital, 5

Congenital Bile Acid Synthesis Defect 5

CBAS5

Bile Acid Synthesis Defect, Congenital, Type 5

Peroxisomal Biogenesis Disorder

Zellweger Spectrum Disorders

Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

Disorders Of Peroxisome Biogenesis

Zellweger Spectrum

Zellweger Syndrome Spectrum

Peroxisomal Biogenesis Disorders

Pbd, Zss

Pbd-Zsd

Pbd-Zss

Pbd-Zellweger Spectrum Disorder

Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum

Peroxisome Biogenesis Disorder

Peroxisome Biogenesis Disorder Spectrum

Peroxisome Biogenesis Disorders

Zellweger Spectrum Disorder

Hyperpipecolic Acidaemia

Klippel-Feil Syndrome 4
Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder

Demyelinating Disease

Demyelinating Diseases

Demyelinating Disorder

Chromosome Xp21 Deletion Syndrome

Complex Glycerol Kinase Deficiency

Xp21 Microdeletion Syndrome

Monosomy Xp21

Xp21 Deletion Syndrome

Complex Gkd

Del

Xp21 Contiguous Gene Deletion Syndrome

Glycerol Kinase Deficiency - Contiguous Gene Syndrome

Acatalasemia

Acatalasia

Catalase Deficiency

Deficiency Of Catalase

ACATLAS

Takahara'S Disease

Takahara Disease

Peroxisome Biogenesis Disorder 1b

Peroxisome Biogenesis Disorder

Infantile Refsum Disease

Infantile Phytanic Acid Storage Disease

PBD1B

Refsum Disease, Infantile

Adrenoleukodystrophy, Autosomal Neonatal

Ird

Mild Pbd-Zsd

Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Pbd-Zsd

Peroxisome Biogenesis Disorder Spectrum

Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Autosomal Neonatal Adrenoleukodystrophy

Refsum Disease Infantile

Peroxisome Biogenesis Disorders

Peroxisome Biogenesis Disorder, Type 1b

Chondrodysplasia Punctata Syndrome

Chondrodysplasia Punctata

Chondrodysplasia Punctata Congenita

Toriello Higgins Miller Syndrome

Chondrodysplasia Punctata, Toriello Type

Toriello-Higgins-Miller Syndrome

Cdp

Chondrodysplasia Punctata, X-Linked Dominant Type

Chondrodysplasia Punctata Group

Dysplasia Punctata Epiphysis

Dysplasia Punctata

Dysplasia Epiphysealis Punctata

Chondrodystrophy Of Punctata

Refsum Disease, Classic

Refsum Disease

Heredopathia Atactica Polyneuritiformis

Phytanic Acid Oxidase Deficiency

Hmsn Iv

Refsum Disease, Adult, 1

Refsum'S Disease

Phytanic Acid Storage Disease

Hereditary Motor And Sensory Neuropathy Iv

Hmsn4

Hmsn Type Iv

Hmsn 4

Adult Refsum Disease

Classic Refsum Disease

Hereditary Motor And Sensory Neuropathy Type Iv

Refsum Syndrome

Hsmn Iv

Disorder Of Cornification 11

Doc 11

Hereditary Sensory And Motor Neuropathy Type 4

Hypertrophic Neuropathy Of Refsum

Ard

Crd

Hereditary Motor And Sensory Neuropathy Type 4

Phytanic-Coa Hydroxylase Deficiency

RD

Leukodystrophy

Leukodystrophies

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

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
Bos taurus SLC25A17 VGNC VGNC:34746
Felis catus SLC25A17 VGNC VGNC:65259
Canis familiaris SLC25A17 VGNC VGNC:46296
Mus musculus SLC25A17 MGD MGI:1342248
Macaca mulatta SLC25A17 VGNC VGNC:98447
Rattus norvegicus SLC25A17 RGD RGD:1311498