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  2. COX6A2 - cytochrome c oxidase subunit 6A2 Gene

COX6A2 - cytochrome c oxidase subunit 6A2 Gene

中文名称:细胞色素 c 氧化酶亚基 6A2

种属: Homo sapiens

同用名: COX6AH; COXVIAH; MC4DN18; COXVIa-M

基因 ID: 1339 | 基因类型: protein coding

关于 COX6A2

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:31,427,731-31,428,360 (from NCBI)

This gene has 2 transcripts (splice variants), 220 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in heart (RPKM 177.9), prostate (RPKM 30.1) and 1 other tissue.

功能概要

细胞色素 c 氧化酶 (COX) 是线粒体呼吸链的末端酶,可催化电子从还原的细胞色素 c 转移到氧气。它是由线粒体基因编码的 3 个催化亚基和核基因编码的多个结构亚基组成的异聚复合物。线粒体编码的亚基在电子传递中起作用,而核编码的亚基可能参与复合物的调控和组装。该核基因编码亚基 VIa 的多肽 2 (心脏/肌肉亚型) ,多肽 2 仅存在于横纹肌中。 VIa 亚基的多肽 1 (肝脏同种型) 由不同的基因编码,存在于所有非肌肉组织中。这两种多肽具有 66% 的氨基酸序列同一性。[RefSeq 提供,2008 年 7 月]

Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (heart/muscle isoform) of subunit VIa, and polypeptide 2 is present only in striated muscles. Polypeptide 1 (liver isoform) of subunit VIa is encoded by a different gene, and is found in all non-muscle tissues. These two polypeptides share 66% amino acid sequence identity. [provided by RefSeq, Jul 2008]

COX6A2 基因产物(1)

mRNA Protein Name
NM_005205.4 NP_005196.1 cytochrome c oxidase subunit 6A2, mitochondrial precursor

COX6A2 蛋白结构

COX6A

COX6A: Cytochrome c oxidase subunit VIa (16 - 90)

  • 0
  • 97 a.a.
蛋白主名 其他名称

cytochrome c oxidase subunit 6A2, mitochondrial

COX VIa-M

关联疾病

疾病名称 别名
Mitochondrial Complex Iv Deficiency, Nuclear Type 18

MC4DN18

Mitochondrial Complex 4 Deficiency, Nuclear Type 18

Isolated Cytochrome C Oxidase Deficiency

Isolated Cox Deficiency

Isolated Mitochondrial Respiratory Chain Complex Iv Deficiency

Linear Skin Defects With Multiple Congenital Anomalies 3

LSDMCA3

Linear Skin Defects With Cardiomyopathy And Other Congenital Anomalies

Skin Defects, Linear, With Multiple Congenital Anomalies, Type 3

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

Mitochondrial Complex Iv Deficiency, Nuclear Type 1

Cytochrome C Oxidase Deficiency

Mitochondrial Complex Iv Deficiency

Cox Deficiency

Cytochrome-C Oxidase Deficiency Disease

MC1DN4

Cytochrome-C Oxidase Deficiency

MC4DN1

Mitochondrial Complex I Deficiency, Nuclear Type 4

Complex 4 Mitochondrial Respiratory Chain Deficiency

Complex Iv Deficiency

Mitochondrial Complex 1 Deficiency, Nuclear Type 4

Nuclear Type Mitochondrial Complex I Deficiency 4

Deficiency Of Mitochondrial Respiratory Chain Complex4

MT-C4D

Complex Iv Mitochondrial Respiratory Chain Deficiency

Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency

Mitochondrial Complex Iv Deficiency, Nuclear, Type 1

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Melas Syndrome

MELAS

Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode

Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes

Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome

Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

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 COX6A2 VGNC VGNC:27637
Rattus norvegicus COX6A2 RGD RGD:2385
Mus musculus COX6A2 MGD MGI:104649
Felis catus COX6A2 VGNC VGNC:61109
Macaca mulatta COX6A2 VGNC VGNC:104690
Canis familiaris COX6A2 VGNC VGNC:54936