Literature summary for 2.5.1.141 extracted from

Valnot, I.; von Kleist-Retzow, J.C.; Barrientos, A.; Gorbatyuk, M.; Taanman, J.W.; Mehaye, B.; Rustin, P.; Tzagoloff, A.; Munnich, A.; R�tig, A.
A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency (2000), Hum. Mol. Genet., 9, 1245-1249.

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Protein Variants

Protein Variants	Comment	Organism
N204K	mutation causing COX-deficiency, disease-causing mutation, the mutant gene is not able to complement the yeast cox10 null strain when expressed in low copy	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
protoheme IX + (2E,6E)-farnesyl diphosphate + H2O	Homo sapiens	the enzyme catalyzes the first step in the conversion of protoheme to the heme A prosthetic groups of the cytochrome c oxidase	heme o + diphosphate	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q12887	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
protoheme IX + (2E,6E)-farnesyl diphosphate + H2O	-	Homo sapiens	heme o + diphosphate	-	?
protoheme IX + (2E,6E)-farnesyl diphosphate + H2O	the enzyme catalyzes the first step in the conversion of protoheme to the heme A prosthetic groups of the cytochrome c oxidase	Homo sapiens	heme o + diphosphate	-	?

Synonyms

Synonyms	Comment	Organism
Cox10	-	Homo sapiens
heme A:farnesyltransferase	-	Homo sapiens

General Information

General Information	Comment	Organism
physiological function	the enzyme catalyzes the first step in the conversion of protoheme to the heme A prosthetic groups of the cytochrome c oxidase	Homo sapiens

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Release 2023.1 (January 2023)