1. Gene
  2. COA3 - cytochrome c oxidase assembly factor 3 Gene

COA3 - cytochrome c oxidase assembly factor 3 Gene

Homo sapiens

Also known as COX25; hCOA3; CCDC56; HSPC009; MC4DN14; MITRAC12

Gene ID: 28958 | Gene type: protein coding

About COA3

Cytogenetic location: 17q21.2 Genomic coordinates (GRCh38): 17:42,797,625-42,798,704 (from NCBI)

This gene has 2 transcripts (splice variants), 194 orthologues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 59.3), duodenum (RPKM 48.8) and 25 other tissues.

Summary

This gene encodes a member of the cytochrome c oxidase assembly factor family. Studies of a related gene in fly suggest that the encoded protein is localized to mitochondria and is essential for cytochrome c oxidase function. [provided by RefSeq, Nov 2012]

COA3 Products(1)

mRNA Protein Name
NM_001040431.3 NP_001035521.1 cytochrome c oxidase assembly factor 3 homolog, mitochondrial

COA3 Protein Structure

Coiled-coil_56

Coiled-coil_56: Coiled-coil domain-containing protein 56 (11 - 104)

  • 0
  • 100
  • 106 a.a.
Protein Preferred Names Protein Names

cytochrome c oxidase assembly factor 3 homolog, mitochondrial

coiled-coil domain-containing protein 56

Related Diseases

Diseases Alias
Mitochondrial Complex Iv Deficiency, Nuclear Type 14

MC4DN14

Mitochondrial Complex 4 Deficiency, Nuclear Type 14

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

Demyelinating Polyneuropathy

Peripheral Demyelinating Neuropathy

Demyelinating Peripheral Neuropathy

Familial Isolated Hypoparathyroidism

Fih

Polyneuropathy

Polyneuropathies

Myoclonic Epilepsy Associated With Ragged-Red Fibers

Merrf Syndrome

MERRF

Fukuhara Syndrome

Myoclonic Epilepsy Associated With Ragged Red Fibers

Myoencephalopathy Ragged-Red Fiber Disease

Myoclonic Epilepsy - Ragged Red Fibers

Myoclonus Epilepsy And Ragged Red Fibers

Myoclonus With Epilepsy And With Ragged Red Fibers

Myoclonic Epilepsy With Ragged Red Fibers

Myoclonic Epilepsy With Ragged-Red Fibers

Fukuhara Disease

Myoclonus Epilepsy Associated With Ragged-Red Fibres

Myoclonus With Epilepsy With Ragged Red Fibers

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

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
Felis catus COA3 VGNC VGNC:61041
Rattus norvegicus COA3 RGD RGD:1564337
Mus musculus COA3 MGD MGI:1098757
Bos taurus COA3 VGNC VGNC:27543