2. Gene
  3. SLC25A26 - solute carrier family 25 member 26 Gene

SLC25A26 - solute carrier family 25 member 26 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：溶质载体家族 25 成员 26

种属: Homo sapiens

同用名: SAMC; COXPD28

基因 ID: 115286 | 基因类型: protein coding

关于 SLC25A26

Cytogenetic location: 3p14.1 Genomic coordinates (GRCh38): 3:66,133,610-66,378,927 (from NCBI)

This gene has 22 transcripts (splice variants), 1 gene allele, 204 orthologues, 49 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 11.7), fat (RPKM 7.0) and 25 other tissues.

功能概要

该基因是线粒体载体家族的成员，该家族包括位于线粒体内膜上的核编码转运蛋白。该家族成员将重要的小分子转运穿过线粒体内膜。这种蛋白质参与将 S-腺苷甲硫氨酸 (SAM) 转运到线粒体中。该基因的突变与联合氧化磷酸化缺陷有关 28。可变剪接导致编码不同亚型的多个转录变体。[RefSeq 提供，2017 年 4 月]

This gene is a member of the mitochondrial carrier family which includes nuclear-encoded transporters localized on the inner mitochondrial membranes. Members of the family transport important small molecules across the mitochondrial inner membrane. This protein is involved in the transport of S-adenosylmethionine (SAM) into the mitochondria. Mutations in this gene are associated with combined Oxidative Phosphorylation deficiency 28. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2017]

SLC25A26 基因产物(9)

mRNA Protein Name
NM_001164796.1 NP_001158268.1 S-adenosylmethionine mitochondrial carrier protein isoform b
NM_001350993.1 NP_001337922.1 S-adenosylmethionine mitochondrial carrier protein isoform b
NM_001379210.1 NP_001366139.1 S-adenosylmethionine mitochondrial carrier protein isoform a
NM_001400705.1 NP_001387634.1 S-adenosylmethionine mitochondrial carrier protein isoform c
NM_001400707.1 NP_001387636.1 S-adenosylmethionine mitochondrial carrier protein isoform d
NM_001400709.1 NP_001387638.1 S-adenosylmethionine mitochondrial carrier protein isoform e
NM_001400711.1 NP_001387640.1 S-adenosylmethionine mitochondrial carrier protein isoform b
NM_001400714.1 NP_001387643.1 S-adenosylmethionine mitochondrial carrier protein isoform f
NM_173471.4 NP_775742.4 S-adenosylmethionine mitochondrial carrier protein isoform a
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables S-adenosyl-L-methionine transmembrane transporter activity EXP
EXP: 通过实验结果推断
14674884 GOA
enables S-adenosyl-L-methionine transmembrane transporter activity IMP
IMP: 通过突变表型推断
14674884 GOA
enables S-adenosyl-L-methionine:S-adenosyl-L-homocysteine antiporter activity IMP
IMP: 通过突变表型推断
26522469 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in S-adenosyl-L-methionine transport IMP
IMP: 通过突变表型推断
14674884 GOA
acts upstream of macromolecule methylation IMP
IMP: 通过突变表型推断
26522469 GOA
involved in mitochondrial S-adenosyl-L-methionine transmembrane transport IMP
IMP: 通过突变表型推断
26522469 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial inner membrane IDA
IDA: 通过直接分析推断
14674884 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

SLC25A26 蛋白结构

Mito_carr

Mito_carr: Mitochondrial carrier protein (4 - 79)

Mito_carr

Mito_carr: Mitochondrial carrier protein (87 - 169)

Mito_carr

Mito_carr: Mitochondrial carrier protein (179 - 266)

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

S-adenosylmethionine mitochondrial carrier protein

mitochondrial S-adenosylmethionine transporter

关联疾病

疾病名称 别名
Combined Oxidative Phosphorylation Deficiency 28

COXPD28

Neonatal Severe Cardiopulmonary Failure Due To Mitochondrial Methylation Defect

Combined Oxidative Phosphorylation Defect Type 28
Combined Oxidative Phosphorylation Deficiency
Neuropathy, Hereditary Sensory, Type Ie

HSN1E

Hsn Ie

Hereditary Sensory Neuropathy Type 1e

Hereditary Sensory Neuropathy Type Ie

Hsan 1

Neuropathy, Hereditary Sensory, With Hearing Loss And Dementia

Hereditary Sensory Neuropathy Type 1

Hsn1

Hereditary Sensory And Autonomic Neuropathy Type 1

Neuropathy Hereditary Sensory And Autonomic Type 1

Neuropathy Hereditary Sensory Radicular, Autosomal Dominant

Neuropathy, Hereditary Sensory, 1e

Neuropathy Hereditary Sensory With Hearing Loss And Dementia

Neuropathy, Hereditary Sensory, Type I

Neuropathy, Sensory, Hereditary, Type Ie

Hereditary Sensory And Autonomic Neuropathy Type Ie

Hereditary Sensory Autonomic Neuropathy, Type 1
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant

Autosomal Dominant Cerebellar Ataxia, Deafness And Narcolepsy

ADCADN

Autosomal Dominant Cerebellar Ataxia, Deafness, And Narcolepsy

Adca-Dn Syndrome

Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome

Adca-Dn

Autosomal Dominant Cerebellar Ataxia-Hearing Loss-Narcolepsy Syndrome

Ataxia, Cerebellar, Deafness, And Narcolepsy, Autosomal Dominant
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
Combined Oxidative Phosphorylation Deficiency 7

COXPD7

Combined Oxidative Phosphorylation Defect Type 7

Severe C12orf65-Related Combined Oxidative Phosphorylation Defect

Severe C12orf65-Related Coxpd

Combined Oxidative Phosphorylation Deficiency, Type 7
Codas Syndrome

Cerebral, Ocular, Dental, Auricular, And Skeletal Anomalies Syndrome

Cerebral, Ocular, Dental, Auricular, And Skeletal Syndrome

Cerebro-Oculo-Dento-Auriculo-Skeletal Syndrome

Cerebrooculodentoauriculoskeletal Syndrome

CODASS

Cerebral, Ocular, Dental, Auricular, Skeletal Syndrome
Hypotrichosis 2

HYPT2

Hypotrichosis Simplex Of The Scalp 1

Htss1

Htss

Hypotrichosis, Spanish Type

Spanish Type Hypotrichosis

Hypotrichosis Spanish Type

Hypotrichosis, Type 2

Hypotrichosis Simplex Of Scalp
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13107 SLC25A26 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus SLC25A26 MGD MGI:1914832
Rattus norvegicus SLC25A26 RGD RGD:1308811
Felis catus SLC25A26 VGNC VGNC:80717
Canis familiaris SLC25A26 VGNC VGNC:46302
Bos taurus SLC25A26 VGNC VGNC:34752
Macaca mulatta SLC25A26 VGNC VGNC:77530
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z