ATP2A1
ATP2A1 is a gene that encodes a protein known as the sarcoplasmic/endoplasmic reticulum calcium ATPase 1 (SERCA1). This protein is a critical component of the calcium signaling pathway, which plays a vital role in muscle contraction and relaxation.
Function[edit | edit source]
The ATP2A1 gene provides instructions for making a protein that is found in the sarcoplasmic reticulum (SR), a structure inside cells that stores calcium ions. The protein, called SERCA1, uses energy from the molecule adenosine triphosphate (ATP) to transport calcium ions into the SR. This process is essential for muscle cells to relax after they contract.
Clinical significance[edit | edit source]
Mutations in the ATP2A1 gene can lead to Brody myopathy, a condition characterized by muscle stiffness and cramps. This is due to the inability of the SERCA1 protein to effectively transport calcium ions, leading to prolonged muscle contraction.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- GeneReviews/NCBI/NIH/UW entry on ATP2A1
- ATP2A1 at the Genetics Home Reference
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Contributors: Prab R. Tumpati, MD
