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RNA tissue category: Group enriched (heart muscle, skeletal muscle)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (heart muscle, skeletal muscle)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (heart muscle, skeletal muscle)
GENE INFORMATION
Gene name
LMOD3
Synonyms
Description
Leiomodin 3 (fetal) (HGNC Symbol)
Entrez gene summary
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]
