ATP6V0A2
ATP6V0A2 (pronounced A-T-P-six-V-zero-A-two) is a gene that provides instructions for making a protein that is part of a large enzyme complex known as V-ATPase (V-type proton ATPase).
Etymology
The term "ATP6V0A2" is derived from the function of the gene. "ATP" stands for Adenosine triphosphate, a molecule that provides energy for many processes in all living cells. "6V0A2" refers to the specific subunit of the V-ATPase that this gene encodes.
Function
The ATP6V0A2 protein is one of about 14 proteins that make up the V-ATPase complex. This complex uses energy from ATP to pump protons (hydrogen ions) across cell membranes. This pumping action is necessary for several cellular functions, including protein processing and transport, and the regulation of pH within cells.
Related Terms
- Adenosine triphosphate: A molecule that provides energy for many processes in all living cells.
- V-ATPase: A large enzyme complex that uses energy from ATP to pump protons across cell membranes.
- Protein: A molecule composed of amino acids that is necessary for the body to build, repair and maintain its cells and tissues.
- Gene: A segment of DNA that contains the instructions for making a specific protein or set of proteins.
Associated Conditions
Mutations in the ATP6V0A2 gene have been associated with a rare condition called Cutis Laxa, type 2A. This condition is characterized by a variety of symptoms, including loose and elastic skin, distinctive facial features, and severe developmental delay.
See Also
External links
- Medical encyclopedia article on ATP6V0A2
- Wikipedia's article - ATP6V0A2
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