COA6
entrez
388753
canonical
uniprot
Q5JTJ3
canonical
ensembl
ENSG00000168275
resolver
ensp
ENSP00000355571
resolver
ensp
ENSP00000355572
resolver
ensp
ENSP00000355574
resolver
genesymbol
COA6
resolver
genesymbol_syn
C1orf31
resolver
hgnc
HGNC:18025
resolver
uniprot
Q5JTJ2
resolver
uniprot
Q5JTJ4
resolver
uniprot
Q8TA88
resolver
uniprot_entry
COA6_HUMAN
resolver
uniprot_sec
Q5JTJ2
resolver
uniprot_sec
Q5JTJ4
resolver
uniprot_sec
Q8TA88
resolver
amino_acid_sequence
MGPGGPLLSPSRGFLLCKTGWHSNRLLGDCGPHTPVSTALSFIAVGMAAPSMKERQVCWGARDEYWKCLDENLEDASQCKKLRSSFESSCPQQWIKYFDKRRDYLKFKEKFEAGQFEPSETTAKS
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex IV deficiency, nuclear type 13 (MC4DN13) [MIM:616501]: An autosomal recessive, infantile disorder with a fatal course in the first weeks of life, characterized by hypertrophic cardiomyopathy, left ventricular non-compaction, lactic acidosis, metabolic hypotonia, and mitochondrial complex IV deficiency. {ECO:0000269|PubMed:24549041, ECO:0000269|PubMed:25339201, ECO:0000269|PubMed:25959673}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in the maturation of the mitochondrial respiratory chain complex IV subunit MT-CO2/COX2. Thereby, may regulate early steps of complex IV assembly. Mitochondrial respiratory chain complex IV or cytochrome c oxidase is the component of the respiratory chain that catalyzes the transfer of electrons from intermembrane space cytochrome c to molecular oxygen in the matrix and as a consequence contributes to the proton gradient involved in mitochondrial ATP synthesis. May also be required for efficient formation of respiratory supercomplexes comprised of complexes III and IV. {ECO:0000269|PubMed:24549041, ECO:0000269|PubMed:25959673, ECO:0000269|PubMed:26160915}.
uniprot
proteins
mass_dalton
14116
uniprot
proteins
protein_family
Cytochrome c oxidase subunit 6B family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22356826
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24549041
uniprot
proteins
pubmed
25339201
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
25959673
uniprot
proteins
pubmed
26160915
uniprot
proteins
pubmed
28330871
uniprot
proteins
pubmed
29154948
uniprot
proteins
pubmed
29381136
uniprot
proteins
sequence_length
125
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion intermembrane space {ECO:0000269|PubMed:25339201, ECO:0000269|PubMed:25959673}.
uniprot
proteins