MYOM1
Description
The MYOM1 (myomesin 1) is a protein-coding gene located on chromosome 18.
Myomesin-1 is a protein encoded by the MYOM1 gene in humans. It is expressed in muscle cells and plays a role in stabilizing the three-dimensional conformation of the thick filament. Embryonic forms of Myomesin-1 have been detected in dilated cardiomyopathy.
Myomesin-1 is part of a family of myosin-associated proteins, including myomesin 2 and titin, that share structural modules with homology to fibronectin type III (motif I) or immunoglobulin C2 (motif II) domains. Myomesin-1 is unique within this family because it has intermediate filament core-like motifs near each terminus. It has a unique N-terminal region followed by 12 modules of motif I or motif II, arranged as II-II-I-I-I-I-I-II-II-II-II-II. It shares 50% sequence identity with Myomesin-2 in this repeat-containing region. The head structure formed by these proteins on one end of the titin string extends into the center of the M band.
Alternatively spliced variants of MYOM1 have been identified, including EH-myomesin, Skelemin, and Myomesin-1. Skelemin has an additional 96 amino acids rich in serine and proline residues. Different isoforms are encoded by tissue-specific transcript variants. Myomesin-1 can dimerize in an anti-parallel fashion via its C-terminal region.
MYOM1 is also known as SKELEMIN.
Associated Diseases
- familial hypertrophic cardiomyopathy
- arrhythmogenic right ventricular cardiomyopathy
- colorectal cancer
- Pallister-Hall syndrome
- cancer
