ARMC2
Description
ARMC2 (Armadillo Repeat Containing 2) is a gene that encodes a protein involved in various cellular processes, particularly in muscle function. Its protein product, ARMC2, is found in striated muscle and interacts with other proteins involved in muscle development and contraction. ARMC2 plays a crucial role in maintaining muscle integrity and regulating calcium signaling, which is essential for muscle contraction. Mutations in the ARMC2 gene have been linked to various muscle disorders, affecting both skeletal and cardiac muscles.
Associated Diseases
Did you know?
ARMC2 gene mutations can be inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected.