ATP2A2
ATP2A2 is a gene that encodes the enzyme SERCA2, a type of calcium pump found in the sarcoplasmic reticulum of cells. This enzyme plays a crucial role in the regulation of intracellular calcium levels, which is essential for various cellular processes, including muscle contraction, neurotransmission, and cell division.
Function
The ATP2A2 gene provides instructions for making an enzyme called SERCA2. This enzyme is found in the sarcoplic reticulum, a structure inside cells that stores calcium ions. SERCA2 helps maintain the correct balance of calcium ions inside cells by transporting these ions into the sarcoplasmic reticulum. This process is powered by a molecule called adenosine triphosphate (ATP).
Clinical significance
Mutations in the ATP2A2 gene are associated with Darier's disease, a skin disorder characterized by wart-like blemishes on the body. The blemishes are caused by abnormal calcium regulation in skin cells, which is thought to result from a malfunctioning SERCA2 enzyme.
See also
References
| Genes on human chromosome 12 | ||||
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| Membrane transport protein: ion pumps | ||||||||||
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