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Literature summary extracted from

  • Valnot, I.; von Kleist-Retzow, J.C.; Barrientos, A.; Gorbatyuk, M.; Taanman, J.W.; Mehaye, B.; Rustin, P.; Tzagoloff, A.; Munnich, A.; R๖tig, A.
    A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency (2000), Hum. Mol. Genet., 9, 1245-1249.
    View publication on PubMed

Protein Variants

EC Number Protein Variants Comment Organism
2.5.1.141 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)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.5.1.141 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

EC Number Organism UniProt Comment Textmining
2.5.1.141 Homo sapiens Q12887
-
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.5.1.141 protoheme IX + (2E,6E)-farnesyl diphosphate + H2O
-
 Homo sapiens heme o + diphosphate
-
 ?
2.5.1.141 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

EC Number Synonyms Comment Organism
2.5.1.141 Cox10
-
 Homo sapiens
2.5.1.141 heme A:farnesyltransferase
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
2.5.1.141 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