1. Gene
  2. COA4 - cytochrome c oxidase assembly factor 4 homolog Gene

COA4 - cytochrome c oxidase assembly factor 4 homolog Gene

Homo sapiens

Also known as CMC3; E2IG2; CHCHD8

Gene ID: 51287 | Gene type: protein coding

About COA4

Cytogenetic location: 11q13.4 Genomic coordinates (GRCh38): 11:73,872,667-73,876,846 (from NCBI)

This gene has 6 transcripts (splice variants) and 148 orthologues. Ubiquitous expression in adrenal (RPKM 9.0), thyroid (RPKM 7.6) and 25 other tissues.

Summary

Predicted to be involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]

COA4 Products(1)

mRNA Protein Name
NM_016565.3 NP_057649.2 cytochrome c oxidase assembly factor 4 homolog, mitochondrial

COA4 Protein Structure

CHCH

CHCH: CHCH domain (34 - 66)

  • 0
  • 87 a.a.
Protein Preferred Names Protein Names

cytochrome c oxidase assembly factor 4 homolog, mitochondrial

E2-induced gene 2 protein

Related Diseases

Diseases Alias
Mohr-Tranebjaerg Syndrome

Deafness-Dystonia-Optic Neuronopathy Syndrome

Jensen Syndrome

Deafness Dystonia Syndrome

MTS

Dds

Deafness-Dystonia-Optic Atrophy Syndrome

Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency

Opticoacoustic Nerve Atrophy With Dementia

Dystonia-Deafness Syndrome

Ddp

Ddon Syndrome

Mohr-Tranebjærg Syndrome

Deafness Dystonia Optic Atrophy Syndrome

Deafness Dystonia Optic Neuronopathy Syndrome

Dystonia Deafness Syndrome

Ddon

Deafness - Dystonia - Optic Neuronopathy Syndrome

Deafness-Dystonia-Optic Neuronopathy Syndrome

Hearing Loss-Dystonia-Optic Neuronopathy Syndrome

Dfn-1

X-Linked Progressive Deafness Type 1

Leigh Syndrome

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy

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
Mus musculus COA4 MGD MGI:1915435
Rattus norvegicus COA4 RGD RGD:1562228
Felis catus COA4 VGNC VGNC:61042
Bos taurus COA4 VGNC VGNC:106696
Macaca mulatta COA4 VGNC VGNC:71340