The ATP2A1 gene provides instructions for making an enzyme called sarco(endo)plasmic reticulum calcium-ATPase 1 (SERCA1). This enzyme belongs to a family of ATPase enzymes that help control the level of positively charged calcium atoms (calcium ions) inside cells. The SERCA1 enzyme is found in skeletal muscle cells. (Skeletal muscles are the muscles used for movement.) Within muscle cells, the SERCA1 enzyme is located in the membrane of a structure called the sarcoplasmic reticulum. This structure plays a major role in muscle contraction and relaxation by storing and releasing calcium ions. When calcium ions are transported out of the sarcoplasmic reticulum, muscles contract; when calcium ions are transported into the sarcoplasmic reticulum, muscles relax. The SERCA1 enzyme transports calcium ions from the cell into the sarcoplasmic reticulum, triggering muscle relaxation.
Other Names
AT2A1_HUMAN; ATP2A; ATPase, Ca++ transporting, cardiac muscle, fast twitch 1; calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform 1; endoplasmic reticulum class 1 Ca2+ ATPase; sarcoplasmic/endoplasmic reticulum calcium ATPase 1; SERCA1; SR Ca2+ ATPase 1
Related Genetics Topics
Identifiers
- NCBI Gene: 487
- OMIM: 108730
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
