The HCCS gene carries instructions for producing an enzyme called holocytochrome c-type synthase. This enzyme is active in many tissues of the body and is found in the mitochondria, the energy-producing centers within cells.
Within the mitochondria, the holocytochrome c-type synthase enzyme helps produce a molecule called cytochrome c. Specifically, holocytochrome c-type synthase is involved in a reaction that adds an iron-containing molecule called heme to make mature cytochrome c, also called holocytochrome c, from a precursor form called apocytochrome c.
Cytochrome c is involved in a process called oxidative phosphorylation, by which mitochondria generate adenosine triphosphate (ATP), the cell’s main energy source. It also plays a role in the self-destruction of cells (apoptosis).
Other Names
CCHL; CCHL_HUMAN; DKFZp779I1858; holocytochrome c synthase (cytochrome c heme-lyase); MCOPS7
Related Genetics Topics
- Microphthalmia with linear skin defects syndrome — MedlinePlus Genetics
- Anophthalmia/Microphthalmia — MedlinePlus Genetics
- Coloboma — MedlinePlus Genetics
Identifiers
- NCBI Gene: 3052
- OMIM: 300056
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
