C2orf69
entrez
205327
canonical
uniprot
Q8N8R5
canonical
ensembl
ENSG00000178074
resolver
ensp
ENSP00000312770
resolver
enst
ENST00000319974
resolver
genesymbol
C2orf69
resolver
hgnc
HGNC:26799
resolver
uniprot
Q8NE30
resolver
uniprot_entry
CB069_HUMAN
resolver
uniprot_sec
Q8NE30
resolver
amino_acid_sequence
MWGFRLLRSPPLLLLLPQLGIGNASSCSQARTMNPGGSGGARCSLSAEVRRRQCLQLSTVPGADPQRSNELLLLAAAGEGLERQDLPGDPAKEEPQPPPQHHVLYFPGDVQNYHEIMTRHPENYQWENWSLENVATILAHRFPNSYIWVIKCSRMHLHKFSCYDNFVKSNMFGAPEHNTDFGAFKHLYMLLVNAFNLSQNSLSKKSLNVWNKDSIASNCRSSPSHTTNGCQGEKVRTCEKSDESAMSFYPPSLNDASFTLIGFSKGCVVLNQLLFELKEAKKDKNIDAFIKSIRTMYWLDGGHSGGSNTWVTYPEVLKEFAQTGIIVHTHVTPYQVRDPMRSWIGKEHKKFVQILGDLGMQVTSQIHFTKEAPSIENHFRVHEVF
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 53 (COXPD53) [MIM:619423]: An autosomal recessive mitochondrial disorder characterized by global developmental delay, hypomyelination, cerebral atrophy, microcephaly, liver dysfunction, and recurrent autoinflammation. {ECO:0000269|PubMed:33945503}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May play a role in the respiratory chain. {ECO:0000269|PubMed:33945503}.
uniprot
proteins
mass_dalton
43448
uniprot
proteins
mutagenesis
MUTAGEN 1..24; /note="Missing: Abolishes mitochondrial localization."; /evidence="ECO:0000269|PubMed:33945503
uniprot
proteins
protein_family
C2orf69 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
33945503
uniprot
proteins
sequence_length
385
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:33945503}.
uniprot
proteins