Aliases for LMOD3 Gene
External Ids for LMOD3 Gene
Previous GeneCards Identifiers for LMOD3 Gene
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]
GeneCards Summary for LMOD3 Gene
LMOD3 (Leiomodin 3) is a Protein Coding gene. Diseases associated with LMOD3 include Nemaline Myopathy 10 and Severe Congenital Nemaline Myopathy. GO annotations related to this gene include actin monomer binding and tropomyosin binding. An important paralog of this gene is LMOD2.
UniProtKB/Swiss-Prot for LMOD3 Gene
Essential for the organization of sarcomeric actin thin filaments in skeletal muscle (PubMed:25250574). Increases the rate of actin polymerization (PubMed:25250574).