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MGP000657

Record overview

MGPD IDMGP000657
Gene ID1352
SpeciesHomo sapiens (Human)
Gene NameCOX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
Gene Symbol COX10
Alternate namesprotoheme IX farnesyltransferase, mitochondrial; COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase; cytochrome c oxidase assembly homolog 10; cytochrome c oxidase assembly protein; cytochrome c oxidase subunit X; heme A: farnesyltransferase; heme O synthase;
Chromosome17
Map Location17p12
EC Number2.5.1.-
SummaryCytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for COX10

Proteins

protoheme IX farnesyltransferase, mitochondrial
Refseq ID:NP_001294
Protein GI:17921982
UniProt ID:Q12887
mRNA ID:NM_001303
Length:443
RefSeq Status:
MAASPHTLSSRLLTGCVGGSVWYLERRTIQDSPHKFLHLLRNVNKQWITFQHFSFLKRMYVTQLNRSHNQQVRPKPEPVASPFLEKTSSGQAKAEIYEMR
PLSPPSLSLSRKPNEKELIELEPDSVIEDSIDVGKETKEEKRWKEMKLQVYDLPGILARLSKIKLTALVVSTTAAGFALAPGPFDWPCFLLTSVGTGLAS
CAANSINQFFEVPFDSNMNRTKNRPLVRGQISPLLAVSFATCCAVPGVAILTLGVNPLTGALGLFNIFLYTCCYTPLKRISIANTWVGAVVGAIPPVMGW
TAATGSLDAGAFLLGGILYSWQFPHFNALSWGLREDYSRGGYCMMSVTHPGLCRRVALRHCLALLVLSAAAPVLDITTWTFPIMALPINAYISYLGFRFY
VDADRRSSRRLFFCSLWHLPLLLLLMLTCKRPSGGGDAGPPPS
 
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