1. Gene
  2. COX8A - cytochrome c oxidase subunit 8A Gene

COX8A - cytochrome c oxidase subunit 8A Gene

Homo sapiens

Also known as COX; COX8; VIII; COX8L; COX8-2; VIII-L; MC4DN15

Gene ID: 1351 | Gene type: protein coding

About COX8A

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:63,974,620-63,976,543 (from NCBI)

This gene has 1 transcript (splice variant), 101 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 159.8), colon (RPKM 143.7) and 25 other tissues.

Summary

The protein encoded by this gene is the terminal Enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton electrochemical gradient across the inner mitochondrial membrane. In addition to 3 mitochondrially encoded subunits, which perform the catalytic function, the eukaryotic Enzyme contains nuclear-encoded smaller subunits, ranging in number from 4 in some organisms to 10 in mammals. It has been proposed that nuclear-encoded subunits may be involved in the modulation of the catalytic function. This gene encodes one of the nuclear-encoded subunits. [provided by RefSeq, Jul 2008]

COX8A Products(1)

mRNA Protein Name
NM_004074.3 NP_004065.1 cytochrome c oxidase subunit 8A, mitochondrial

COX8A Protein Structure

COX8

COX8: Cytochrome oxidase c subunit VIII (26 - 69)

  • 0
  • 69 a.a.
Protein Preferred Names Protein Names

cytochrome c oxidase subunit 8A, mitochondrial

cytochrome c oxidase polypeptide VIII-liver/heart

Related Diseases

Diseases Alias
Mitochondrial Complex Iv Deficiency, Nuclear Type 15

MC4DN15

Mitochondrial Complex 4 Deficiency, Nuclear Type 15

Isolated Cytochrome C Oxidase Deficiency

Isolated Cox Deficiency

Isolated Mitochondrial Respiratory Chain Complex Iv Deficiency

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

Cardiomyopathy, Familial Hypertrophic, 4

Hypertrophic Cardiomyopathy 4

CMH4

Cardiomyopathy, Hypertrophic, 4

Cardiomyopathy, Familial Hypertrophic 4

Cardiomyopathy, Familial Hypertrophic, 4, Susceptibility To

Cardiomyopathy, Hypertrophic, Familial, Type 4

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
Macaca mulatta COX8A VGNC VGNC:107440
Mus musculus COX8A MGD MGI:105959
Felis catus COX8A VGNC VGNC:82003
Rattus norvegicus COX8A RGD RGD:620638