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cox10

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Official Full Name
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
Background
Cytochrome 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.
Synonyms
COX10; COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast); COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase); protoheme IX farnesyltransferase, mitochondrial; mitochondrial; 2410004F01Rik; AU042636; COX10_HUMAN; Cytochrome c oxidase assembly protein; Cytochrome c oxidase subunit X; Heme A farnesyltransferase; Heme O synthase; OTTMUSP00000006085; Protoheme IX farnesyltransferase; Protoheme IX farnesyltransferase, mitochondrial precursor; RP23-78H18.1; heme A: farnesyltransferase; cytochrome c oxidase assembly homolog 10 (yeast); COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase; COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor; im:7145568; im:7157205; wu:fb18a03; cytochrome c oxidase assembly homolog 10; COX10 homolog, cytochrome c oxidase assembly prote

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