The MT-ATP6 gene provides information for making a protein that is essential for normal mitochondrial function. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. These cellular structures produce energy through a process called oxidative phosphorylation, which uses oxygen and simple sugars to create adenosine triphosphate (ATP), the cell’s main energy source.
The MT-ATP6 protein forms one part (subunit) of a large enzyme called ATP synthase. This enzyme, which is also known as complex V, is responsible for the final step of oxidative phosphorylation. Specifically, one segment of ATP synthase allows positively charged particles, called protons, to flow across a specialized membrane inside mitochondria. Another segment of the enzyme uses the energy created by this proton flow to convert a molecule called adenosine diphosphate (ADP) to ATP.
Other Names
ATP synthase 6; ATP synthase F0 subunit 6; ATP6; ATP6_HUMAN; ATPase protein 6; ATPase-6; ATPASE6; mitochondrially encoded ATP synthase 6; MTATP6; Su6m
Related Genetics Topics
- Charcot-Marie-Tooth disease — MedlinePlus Genetics
- Neuropathy, ataxia, and retinitis pigmentosa — MedlinePlus Genetics
- Leigh syndrome — MedlinePlus Genetics
- Mitochondrial complex V deficiency — MedlinePlus Genetics
Identifiers
- NCBI Gene: 4508
- OMIM: 500003
- OMIM: 516060
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
