COX18
entrez
285521
canonical
uniprot
Q8N8Q8
canonical
ensembl
ENSG00000163626
resolver
ensp
ENSP00000295890
resolver
ensp
ENSP00000425261
resolver
ensp
ENSP00000686554
resolver
ensp
ENSP00000686555
resolver
enst
ENST00000507544
resolver
genesymbol
COX18
resolver
genesymbol_syn
OXA1L2
resolver
hgnc
HGNC:26801
resolver
uniprot
B7ZL88
resolver
uniprot
F8W7R2
resolver
uniprot
Q2PB66
resolver
uniprot
Q2PB67
resolver
uniprot
Q2PB68
resolver
uniprot
Q49B97
resolver
uniprot
Q6IPP9
resolver
uniprot_entry
B7ZL88_HUMAN
resolver
uniprot_entry
COX18_HUMAN
resolver
uniprot_entry
F8W7R2_HUMAN
resolver
uniprot_sec
Q2PB66
resolver
uniprot_sec
Q2PB67
resolver
uniprot_sec
Q2PB68
resolver
uniprot_sec
Q49B97
resolver
uniprot_sec
Q6IPP9
resolver
amino_acid_sequence
MLCRLGGRWLRPLPALQLWARDLPLAPVPTSGAKRPTLPVWAVAPVSAVHANGWYEALAASSPVRVAEEVLLGVHAATGLPWWGSILLSTVALRGAVTLPLAAYQHYILAKVENLQPEIKTIARHLNQEVAVRANQLGWSKRDARLTYLKNMRRLISELYVRDNCHPFKATVLVWIQLPMWIFMSFALRNLSTGAAHSEGFSVQEQLATGGILWFPDLTAPDSTWILPISVGVINLLIVEICALQKIGMSRFQTYITYFVRAMSVLMIPIAATVPSSIVLYWLCSSFVGLSQNLLLRSPGFRQLCRIPSTKSDSETPYKDIFAAFNTKFISRK
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex IV deficiency, nuclear type 25 (MC4DN25) [MIM:621487]: A primary mitochondrial disease, a clinically heterogeneous group of disorders arising from dysfunction of the mitochondrial respiratory chain. MC4DN25 is an autosomal recessive form characterized by neonatal encephalopathy, hypertrophic cardiomyopathy, myopathy with axonal sensory neuropathy, and failure to thrive. {ECO:0000269|PubMed:37468577}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Charcot-Marie-Tooth disease, axonal, type 2MM (CMT2MM) [MIM:621488]: An autosomal recessive, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2MM is characterized by progressive axonal sensorimotor peripheral neuropathy with age of onset between the first and fifth decade. Some patients also exhibit central nervous system symptoms, such as dystonia and spasticity. {ECO:0000269|PubMed:40830826}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mitochondrial membrane insertase required for the translocation of the C-terminus of cytochrome c oxidase subunit II (MT-CO2/COX2) across the mitochondrial inner membrane. Plays a role in MT-CO2/COX2 maturation following the COX20-mediated stabilization of newly synthesized MT-CO2/COX2 protein and before the action of the metallochaperones SCO1/2. Essential for the assembly and stability of the mitochondrial respiratory chain complex IV (also known as cytochrome c oxidase). {ECO:0000269|PubMed:16911509, ECO:0000269|PubMed:28330871}.
uniprot
proteins
mass_dalton
37063
uniprot
proteins
protein_family
OXA1/ALB3/YidC family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16212937
uniprot
proteins
pubmed
16911509
uniprot
proteins
pubmed
28330871
uniprot
proteins
pubmed
29154948
uniprot
proteins
pubmed
37468577
uniprot
proteins
pubmed
40830826
uniprot
proteins
sequence_length
333
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:16212937, ECO:0000269|PubMed:28330871}; Multi-pass membrane protein {ECO:0000269|PubMed:16212937}.
uniprot
proteins
transmembrane_region
TRANSMEM 168..188; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 224..244; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 263..283; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins