MYOM2
Description
The MYOM2 (myomesin 2) is a protein-coding gene located on chromosome 8.
Myomesin-2, also known as M-protein, is a protein encoded by the MYOM2 gene in humans. It is found in adult cardiac and fast skeletal muscles, where it stabilizes the structure of M-bands within sarcomeres. M-protein is a large protein (165.0 kDa, 1465 amino acids) located on chromosome 8p23.3. It is a member of the cytoskeletal protein superfamily and contains immunoglobulin/fibronectin repeats. Its expression varies between cardiac and skeletal muscles, and between fast and slow skeletal muscle fibers during development, suggesting different regulatory mechanisms. In cardiac muscle, M-protein expression increases from neonatal to adult stages. In skeletal muscle, however, M-protein mRNA expression is biphasic: it is initially present in both slow and fast embryonic fibers, but is later suppressed in slow fibers. The embryonic splice variant of myomesin, termed EH-myomesin, is expressed in a complementary pattern with M-protein during development in higher vertebrates.
MYOM2 is also known as TTNAP.
Associated Diseases
- Parkinson disease
- lysosomal storage disease
- multiple sclerosis
- Alzheimer disease
- skin basal cell carcinoma
- hemorrhagic disease
- Griscelli syndrome type 3
- Tietz syndrome
- loose anagen syndrome
- oculocutaneous albinism type 3
- uncombable hair syndrome
- oculocutaneous albinism type 4
- iridocorneal endothelial syndrome
