MYOT

This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008]

Description

Myotilin

Tissue specificity

Group enriched (skeletal muscle, tongue)

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

5 (137867858 - 137887851)

Ensembl ID

ENSG00000120729  (ver. 103.38)

Orthologs

Mouse Myot: ENSMUSG00000024471

UniProt

Q9UBF9

neXtProt

NX_Q9UBF9

Human splice variants
Mouse splice variants

Protein structure