MYOT (myotilin)

2009-06-01  

Identity

HGNC
LOCATION
5q31.2
LOCUSID
ALIAS
LGMD1,LGMD1A,MFM3,TTID,TTOD
FUSION GENES

Other Information

Locus ID:

NCBI: 9499
MIM: 604103
HGNC: 12399
Ensembl: ENSG00000120729

Variants:

dbSNP: 9499
ClinVar: 9499
TCGA: ENSG00000120729
COSMIC: MYOT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000120729ENST00000239926A0A0C4DFM5
ENSG00000120729ENST00000421631Q9UBF9
ENSG00000120729ENST00000515645B4DT68

Expression (GTEx)

0
100
200
300
400
500
600
700

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
151116752004Mutations in myotilin cause myofibrillar myopathy.61
124993992003Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly.37
190473742009A class III PDZ binding motif in the myotilin and FATZ families binds enigma family proteins: a common link for Z-disc myopathies.33
160769042005The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins.31
163806162005A mutation in myotilin causes spheroid body myopathy.19
161227332005Actin-organising properties of the muscular dystrophy protein myotilin.17
167932702006Myotilinopathy in a family with late onset myopathy.13
191519832009Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.13
124282132002myotilin Mutation found in second pedigree with LGMD1A.12

Citation

Dessen P

MYOT (myotilin)

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/gene/50939/myot