Recombinant Human Protoheme IX farnesyltransferase, mitochondrial (COX10), Truncated

Uniprot Id

Q12887

Target Species

Human

Target Name

COX10

Target Full Name

Protoheme IX farnesyltransferase, mitochondrial

Target Function

Converts protoheme IX and farnesyl diphosphate to heme O.

Target Involvement

Mitochondrial complex IV deficiency (MT-C4D); Leigh syndrome (LS)

Target Subcellular Location

Mitochondrion membrane; Multi-pass membrane protein.

Target Protein Families

UbiA prenyltransferase family

Target Synonyms

2410004F01Rik; AU042636; COX10; COX10_HUMAN; Cytochrome c oxidase assembly protein; Cytochrome c oxidase subunit X; Heme A farnesyltransferase; Heme O synthase; OTTMUSP00000006085; Protoheme IX farnesyltransferase; mitochondrial; Protoheme IX farnesyltransferase; mitochondrial precursor; RP23-78H18.1

Target 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.