COX6A2 - cytochrome c oxidase subunit 6A2 Gene

Also Known as COX6AH; COXVIAH; MC4DN18; COXVIa-M

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1339

About 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.

Summary

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 Products (1)

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

COX6A2 Protein Structure

COX6A

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

  • 0
  • 97 a.a.
Protein Preferred Names Protein Names

cytochrome c oxidase subunit 6A2, mitochondrial

  • COX VIa-M

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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
Others COX6A2 NCBI