QuickView for MYOT;jsessionid=C26DD3BC60C4F30B99833C66D1BC090F (gene)

Gene Symbol:

MYOT Homo sapiens

Full name:

myotilin

Synonyms:

LGMD1, LGMD1A, MFM3, TTID, TTOD, myotilin, 57 kDa cytoskeletal protein, myofibrillar titin-like Ig domains protein, titin immunoglobulin domain protein (myotilin)

Genomic Location:

Chr 5: 137231473-137251440

Description:

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 myopa...

View Full Description

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.

View Less

Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Bos taurus ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GCANCTGNY_MYOD_Q6 ,  LYF1_01 ,  WGTTNNNNNAAA_UNKNOWN ,  CTTTGA_LEF1_Q2 ,  GATA1_04 ,  P53_02 ,  GCM_Q2 ,  TGCCAAR_NF1_Q6 ,  SOX5_01 ,  GATA4_Q3 ,  GATA1_05 ,  TGATTTRY_GFI1_01 ,  CAGCTG_AP4_Q5 ,  TGACATY_UNKNOWN

View More

View Less

Cytogenetic Map:

5q31.2

search → result