MYOT
Gene Information
- Official Symbol: MYOT
- Official Name: myotilin
- Aliases and Previous Symbols: N/A
- Entrez ID: 9499
- UniProt: Q9UBF9
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: 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].
- UniProt Summary: Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells. {ECO:0000269|PubMed:12499399}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 10904
- Expression level (log2 read counts): -5.6
MYOT Expression in NALM6 Cells: -5.6
