COA5
entrez
493753
canonical
uniprot
Q86WW8
canonical
ensembl
ENSG00000183513
resolver
ensp
ENSP00000330730
resolver
enst
ENST00000328709
resolver
genesymbol
COA5
resolver
genesymbol_syn
C2orf64
resolver
genesymbol_syn
PET191
resolver
hgnc
HGNC:33848
resolver
uniprot_entry
COA5_HUMAN
resolver
amino_acid_sequence
MPKYYEDKPQGGACAGLKEDLGACLLQSDCVVQEGKSPRQCLKEGYCNSLKYAFFECKRSVLDNRARFRGRKGY
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex IV deficiency, nuclear type 9 (MC4DN9) [MIM:616500]: An autosomal recessive, infantile disorder with a fatal course in the first weeks of life, and characterized by hypertrophic cardiomyopathy and mitochondrial complex IV deficiency. Postmortem microscopic investigations show accumulation of lipid droplets in cardiomyocytes and mitochondrial proliferation. {ECO:0000269|PubMed:21457908}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Assembly factor for cytochrome c oxidase (respiratory chain complex IV) (PubMed:21457908, PubMed:35750769). Stabilizes an early formation of cytochrome c oxidase assembly factors, until it is displaced by the metallochaperone copper-delivery protein COX17 (PubMed:35750769). {ECO:0000269|PubMed:21457908, ECO:0000269|PubMed:35750769}.
uniprot
proteins
mass_dalton
8376
uniprot
proteins
protein_family
PET191 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
21457908
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
35750769
uniprot
proteins
sequence_length
74
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion intermembrane space {ECO:0000305|PubMed:35750769}.
uniprot
proteins