COX20
entrez
116228
canonical
uniprot
Q5RI15
canonical
ensembl
ENSG00000203667
resolver
ensp
ENSP00000355486
resolver
ensp
ENSP00000406327
resolver
ensp
ENSP00000543454
resolver
genesymbol
COX20
resolver
genesymbol
FAM36A
resolver
genesymbol_syn
FAM36A
resolver
hgnc
HGNC:26970
resolver
uniprot
B3KM21
resolver
uniprot
Q8WV86
resolver
uniprot_entry
B3KM21_HUMAN
resolver
uniprot_entry
COX20_HUMAN
resolver
uniprot_sec
Q8WV86
resolver
amino_acid_sequence
MAAPPEPGEPEERKSLKLLGFLDVENTPCARHSILYGSLGSVVAGFGHFLFTSRIRRSCDVGVGGFILVTLGCWFHCRYNYAKQRIQERIAREEIKKKILYEGTHLDPERKHNGSSSN
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex IV deficiency, nuclear type 11 (MC4DN11) [MIM:619054]: An autosomal recessive mitochondrial disorder with onset in childhood or adolescence. MC4DN11 is characterized by walking difficulties, cerebellar ataxia, dystonia, choreoathetotic movements and dysarthria. Additional features may include sensory axonal neuropathy, cerebellar atrophy, and mild speech delay. Cognitive function is normal. Serum lactate levels are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. {ECO:0000269|PubMed:23125284, ECO:0000269|PubMed:24202787, ECO:0000269|PubMed:29154948}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Essential for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase (PubMed:23125284). Acts as a chaperone in the early steps of cytochrome c oxidase subunit II (MT-CO2/COX2) maturation, stabilizing the newly synthesized protein and presenting it to metallochaperones SCO1/2 which in turn facilitates the incorporation of the mature MT-CO2/COX2 into the assembling CIV holoenzyme (PubMed:24403053). {ECO:0000269|PubMed:23125284, ECO:0000269|PubMed:24403053}.
uniprot
proteins
mass_dalton
13291
uniprot
proteins
protein_family
COX20 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22356826
uniprot
proteins
pubmed
23125284
uniprot
proteins
pubmed
24202787
uniprot
proteins
pubmed
24403053
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28330871
uniprot
proteins
pubmed
29154948
uniprot
proteins
sequence_length
118
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:23125284, ECO:0000269|PubMed:29154948}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 34..51; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 61..77; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins