Skip to content
GeneQ18042327· pop 6· linked from 4 articles

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.

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
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].

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
View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of
gene
Show 9 more facts
HomoloGene ID
28097
found in taxon
Homo sapiens
genomic end
69172183
genomic start
69106065
cytogenetic location
3p14.1
genetic association
nemaline myopathy
Sources (4)

via Wikidata · CC0

~1 min read

Encyclopedic overview

3 sections
Contents
  • 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.

Available in 6 languages

via Wikidata sitelinks · CC0

Connections

Categories