MYO1A
Description
The MYO1A (myosin IA) is a protein-coding gene located on chromosome 12.
MYO1A gene encodes unconventional myosin-Ia, a protein belonging to the myosin superfamily. Myosins are molecular motors that utilize ATP hydrolysis to generate force when interacting with actin filaments. MYO1A has a conserved N-terminal motor domain with ATP-binding and actin-binding sequences, followed by a neck region with IQ motifs for calmodulin or other calcium-binding proteins. The C-terminal tail domain is unique to each myosin class and facilitates dimerization, membrane binding, and subcellular localization. MYO1A is expressed by enterocytes in the small intestine, specifically at the brush border. The protein has rapid turnover with transient interactions between its head and tail domains with actin and the plasma membrane, respectively. MYO1A binds to the actin core bundle, which undergoes slower turnover.
MYO1A is also known as BBMI, DFNA48, MIHC, MYHL.
Associated Diseases
- autosomal dominant nonsyndromic hearing loss
- prostate cancer
- atresia of small intestine
- corneal endothelial dystrophy
- duodenal atresia
- Lisch epithelial corneal dystrophy
