ATP2C2
ATP2C2: A Gene with a Crucial Role in Maintaining Cellular Function
Description
ATP2C2, also known as the SERCA2 gene, encodes a protein called sarcoplasmic/endoplasmic reticulum calcium ATPase 2 (SERCA2). SERCA2 is a calcium pump that is responsible for transporting calcium ions from the cytosol into the endoplasmic reticulum (ER) and sarcoplasmic reticulum (SR). This process is essential for controlling intracellular calcium levels, which play a vital role in numerous cellular processes, including muscle contraction, nerve transmission, and immune function.
Associated Diseases
Mutations in the ATP2C2 gene have been linked to several diseases, including:
- Cardiovascular diseases: Mutations in ATP2C2 can disrupt calcium homeostasis in the heart, leading to conditions such as dilated cardiomyopathy, arrhythmias, and heart failure.
- Neurological disorders: ATP2C2 mutations have been implicated in certain neurodegenerative diseases, such as amyotrophic lateral sclerosis (ALS) and Huntington's disease. Calcium dysregulation is believed to contribute to neuronal damage in these conditions.
- Muscle disorders: Mutations in ATP2C2 can impair muscle function and cause conditions such as muscular dystrophy. Calcium is essential for proper muscle contraction, and disruptions in calcium handling can lead to muscle weakness and degeneration.
Did you Know ?
Approximately 1 in 10,000 individuals worldwide are affected by a mutation in the ATP2C2 gene. This underscores the prevalence of ATP2C2-related disorders and the importance of understanding their genetic basis.
