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The official name of this gene is “ATPase, Ca++ transporting, cardiac muscle, fast twitch 1.”
ATP2A1 is the gene's official symbol. The ATP2A1 gene is also known by other names, listed below.
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.
The ATP2A1 gene belongs to a family of genes called ATP (ATPase superfamily).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
At least 10 mutations in the ATP2A1 gene have been found to cause Brody myopathy, a muscle disorder characterized by muscle cramping after exercise. Most ATP2A1 gene mutations lead to a premature stop signal in the instructions for making the SERCA1 enzyme, resulting in a nonfunctional enzyme. Other mutations lead to the production of a SERCA1 enzyme with decreased function. As a result, calcium ions are slow to enter the sarcoplasmic reticulum and muscle relaxation is delayed. After exercise or other strenuous activity, during which the muscles rapidly contract and relax, people with Brody myopathy develop muscle cramps because their muscles cannot fully relax. Scientists believe that other proteins or other pathways may function in the absence of a fully functional SERCA1 enzyme to transport calcium ions into the sarcoplasmic reticulum and help with muscle relaxation.
Cytogenetic Location: 16p12.1
Molecular Location on chromosome 16: base pairs 28,889,191 to 28,915,829
The ATP2A1 gene is located on the short (p) arm of chromosome 16 at position 12.1.
More precisely, the ATP2A1 gene is located from base pair 28,889,191 to base pair 28,915,829 on chromosome 16.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about ATP2A1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
Ca ; calcium ; cardiac ; cell ; class ; contraction ; endoplasmic reticulum ; enzyme ; gene ; ions ; sarcoplasmic reticulum ; skeletal muscle
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.