COX15 transforms heme O to heme A

Stable Identifier
Reaction [transition]
Homo sapiens
Locations in the PathwayBrowser
SVG |   | PPTX  | SBGN
Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout

Heme A is the prosthetic group of cytochrome c oxidase, the terminal enzyme in the respiratory chain. It is formed by the action of cytochrome c oxidase assembly protein COX15 homolog (COX15) on heme O (Petruzzella et al. 1998, Antonicka et al. 2003). Defects in COX15 cause of mitochondrial complex IV deficiency (MT-C4D; MIM:220110), also called cytochrome c oxidase deficiency resulting in a disorder of the mitochondrial respiratory chain seen as heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs (Antonicka et al. 2003). Defects in COX15 also cause Leigh syndrome (LS; MIM:256000), an early-onset progressive neurodegenerative disorder characterised by the presence of focal, bilateral lesions in one or more areas of the central nervous system (Oquendo et al. 2004, Bugiani et al. 2005).

Literature References
PubMed ID Title Journal Year
9878253 Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain

Petruzzella, V, Ianna, P, Zeviani, M, Carrozzo, R, Fernandez, P, Tiranti, V

Genomics 1998
15235026 Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome

Brown, GK, Shoubridge, EA, Oquendo, CE, Reardon, W, Antonicka, H

J. Med. Genet. 2004
15863660 Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency

Zeviani, M, Uziel, G, Bugiani, M, Tiranti, V, Farina, L

J. Med. Genet. 2005
12474143 Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

Kennaway, NG, Carlson, CG, Antonicka, H, Hoffbuhr, KC, Mattman, A, Shoubridge, EA, Leary, SC, Glerum, DM

Am. J. Hum. Genet. 2003
Catalyst Activity

oxidoreductase activity, acting on the CH-CH group of donors of COX15 [mitochondrial inner membrane]

Orthologous Events
Cite Us!