MYOT

GENE INFORMATION

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Gene name

MYOT (HGNC Symbol)

Synonyms

LGMD1, LGMD1A, TTID

Description

Myotilin (HGNC Symbol)

Entrez gene 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]

Chromosome

5

Cytoband

q31.2

Chromosome location (bp)

137203480 - 137223540

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000120729 (version 75.37)

Entrez gene

9499

UniProt

Q9UBF9 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UBF9

Antibodypedia

MYOT antibodies
 

PROTEIN VIEW

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MYOT-001
 
MYOT-002
 
MYOT-004
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MYOT-001 ENSP00000239926
ENST00000239926
Q9UBF9
Show all »
Show » Show » 498 55.4 No 0
MYOT-002 ENSP00000391185
ENST00000421631
Q9UBF9
Show all »
Show » Show » 314 35.1 No 0
MYOT-004 ENSP00000426281
ENST00000515645
B4DT68
Show all »
Show » Show » 383 42.9 No 0