LMOD3

Also known as NEM10, leiomodin 3

Leiomodin-3 is a protein that in humans is encoded by the LMOD3 gene. Leiomodin-3 is especially present at the pointed end of muscle thin filaments.

Gene data

LMOD3

Name: leiomodin 3
Type: protein-coding
Position: 69,106,065–69,123,032 (−)
Aliases: NEM10
Ensembl: ENSG00000163380
RefSeq RNA: NM_001304418.3, NM_198271.5
RefSeq protein: NP_001291347.1, NP_938012.2

The protein encoded by this gene is a member of the leiomodin family of proteins. This protein contains three actin-binding domains, a tropomyosin domain, a leucine-rich repeat domain, and a Wiskott-Aldrich syndrome protein homology 2 domain (WH2). Localization of this protein to the pointed ends of thin filaments has been observed, and there is evidence that this protein acts as a catalyst of actin nucleation, and is important to the organization of sarcomeric thin filaments in skeletal muscles. Mutations in this gene have been associated as one cause of Nemaline myopathy, as other genes have also been linked to this disorder. Nemaline myopathy is a disorder characterized by nonprogressive generalized muscle weakness and protein inclusions (nemaline bodies) in skeletal myofibers. Patients with mutations in this gene often present with a severe congenital form of the disorder. [provided by RefSeq, Jan 2015].