1. Gene
  2. SLC25A42 - solute carrier family 25 member 42 Gene

SLC25A42 - solute carrier family 25 member 42 Gene

中文名称:溶质载体家族 25 成员 42

种属: Homo sapiens

同用名: MECREN

基因 ID: 284439 | 基因类型: protein coding

关于 SLC25A42

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:19,063,994-19,113,030 (from NCBI)

This gene has 6 transcripts (splice variants), 249 orthologues, 49 paralogues and is associated with 2 phenotypes. Broad expression in kidney (RPKM 18.3), liver (RPKM 12.3) and 24 other tissues.

功能概要

该基因编码溶质载体家族 25 蛋白。溶质载体家族 25 蛋白定位于线粒体,并在分子穿过线粒体内膜的运输中发挥关键作用。编码的蛋白质是辅酶 A (CoA) 和腺苷 3',5'-二磷酸的线粒体转运蛋白。[RefSeq 提供,2012 年 2 月]

This gene encodes a solute carrier family 25 protein. Solute carrier family 25 proteins are localized to mitochondria and play critical roles in the transport of molecules across the inner mitochondrial membrane. The encoded protein is a mitochondrial transporter for coenzyme A (CoA) and adenosine 3',5'-diphosphate. [provided by RefSeq, Feb 2012]

SLC25A42 基因产物(2)

mRNA Protein Name
NM_001321544.2 NP_001308473.1 mitochondrial coenzyme A transporter SLC25A42
NM_178526.5 NP_848621.2 mitochondrial coenzyme A transporter SLC25A42

SLC25A42 蛋白结构

Mito_carr

Mito_carr: Mitochondrial carrier protein (31 - 120)

Mito_carr

Mito_carr: Mitochondrial carrier protein (129 - 216)

Mito_carr

Mito_carr: Mitochondrial carrier protein (224 - 314)

  • 0
  • 100
  • 200
  • 300
  • 318 a.a.
蛋白主名 其他名称

mitochondrial coenzyme A transporter SLC25A42

关联疾病

疾病名称 别名
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression

MECREN

Mitochondrial Myopathy

Mitochondrial Myopathies

Mitochondrial Cytopathy

Myopathies In Mitochondrial Disorders

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2

PEOA2

Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 2

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 2

Chronic Progressive External Ophthalmoplegia

Progressive External Ophthalmoplegia, Autosomal Dominant 2

Autosomal Dominant Progressive External Ophthalmoplegia 2

Cpeo

Graefe Disease

Mitochondrial Ocular Myopathy

Ocular Myopathy Of Von Graefe-Fuchs

Progressive External Ophthalmoplegia Autosomal Dominant 2

Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 2

Kearns-Sayre Syndrome

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Combined D-2- And L-2-Hydroxyglutaric Aciduria

D,L-2-Hydroxyglutaric Aciduria

D2L2AD

Combined D-2-Hydroxyglutaric Acidemia And L-2-Hydroxyglutaric Acidemia

Combined D-2-Hydroxyglutaric Aciduria And L-2-Hydroxyglutaric Aciduria

D,L-2-Hga

D,L-2-Hydroxyglutaric Acidemia

Combined D,L-2-Hydroxyglutaric Aciduria

Developmental And Epileptic Encephalopathy 39

Hypomyelination, Global Cerebral

Agc1 Deficiency

Epileptic Encephalopathy, Early Infantile, 39

DEE39

Eiee39

Aspartate-Glutamate Carrier 1 Deficiency

Epileptic Encephalopathy With Global Cerebral Demyelination

Developmental And Epileptic Encephalopathy, 39

Early Infantile Epileptic Encephalopathy 39

Mitochondrial Aspartate-Glutamate Carrier 1 Deficiency

Global Cerebral Hypomyelination

Hereditary Central Nervous System Demyelinating Diseases

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 SLC25A42 VGNC VGNC:46313
Felis catus SLC25A42 VGNC VGNC:65276
Bos taurus SLC25A42 VGNC VGNC:34767
Macaca mulatta SLC25A42 VGNC VGNC:77579
Mus musculus SLC25A42 MGD MGI:1920345
Rattus norvegicus SLC25A42 RGD RGD:1592346