LMOD3
Sign in to saveAlso 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.
In the Vinony graph
Within Vinony's link graph, LMOD3 is referenced by 4 other articles, and connects out to PubMed, human chromosome 3 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 3.
Its subject is documented across 6 Wikipedia language editions.
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].
Gene Ontology
Biological process
Molecular function
via MyGene.info
Gene · Ensembl
leiomodin 3
- Symbol
- LMOD3
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 3:69,106,065-69,123,032
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 9 more facts
- HomoloGene ID
- 28097
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/56203
- genomic end
- 69172183
- genomic start
- 69106065
- chromosome
- human chromosome 3
- cytogenetic location
- 3p14.1
- genetic association
- nemaline myopathy
- expressed in
- tibialis anterior muscle
via Wikidata · CC0
~1 min read
Encyclopedic overview
3 sectionsContents
- Clinical significance
- References
- Further reading
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.
==Clinical significance== Dysfunction is associated with thin filament disorganisation and nemaline myopathy.
Excerpted from Wikipedia’s “LMOD3” article, available under the CC BY-SA 4.0 licence.