COX6A2 - cytochrome c oxidase subunit 6A2 Gene

Homo sapiens

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

Gene ID: 1339 | Gene type: protein coding

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03069	COX6A2 Human Pre-designed siRNA Set A		/	Unkown
HY-RS03071	COX6B2 Human Pre-designed siRNA Set A		/	Unkown

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

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