Entity Details

Primary name LMOD3
Entity type gene
Source Source Link

Details

PrimaryID56203
RefseqGeneNG_041828
SymbolLMOD3
Nameleiomodin 3
Chromosome3
Location3p14.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-21
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsLMOD3_HUMAN

GO terms

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GOName
GO:0003785 actin monomer binding
GO:0005523 tropomyosin binding
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005865 striated muscle thin filament
GO:0006936 muscle contraction
GO:0006941 striated muscle contraction
GO:0007015 actin filament organization
GO:0030016 myofibril
GO:0030239 myofibril assembly
GO:0030240 skeletal muscle thin filament assembly
GO:0031430 M band
GO:0045010 actin nucleation
GO:0048741 skeletal muscle fiber development
GO:0048743 positive regulation of skeletal muscle fiber development
GO:0051694 pointed-end actin filament capping

Diseases

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Disease IDSourceNameDescription
616165 OMIMNemaline myopathy 10 (NEM10)An autosomal recessive severe form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM10 is characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Additional features include arthrogryposis or congenital contractures, ophthalmoplegia, a history of prematurity, reduced fetal movements, and polyhydramnios. Most patients die of respiratory failure in early infancy. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
LMOD3LMO2BioGRID, IntAct32296183 details
LMOD3KLHL40BioGRID24960163 details