Identity
HGNC
LOCATION
5q31.2
LOCUSID
ALIAS
LGMD1,LGMD1A,MFM3,TTID,TTOD
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9499
MIM: 604103
HGNC: 12399
Ensembl: ENSG00000120729
Variants:
dbSNP: 9499
ClinVar: 9499
TCGA: ENSG00000120729
COSMIC: MYOT
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000120729 | ENST00000239926 | A0A0C4DFM5 |
| ENSG00000120729 | ENST00000421631 | Q9UBF9 |
| ENSG00000120729 | ENST00000515645 | B4DT68 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36776921 | 2023 | Silencing MYOT Expression May Inhibit Autophagy in Human Skeletal Muscle Cells. | 1 |
| 37511242 | 2023 | Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish. | 2 |
| 37553249 | 2023 | A novel in-frame deletion in MYOT causes an early adult onset distal myopathy. | 1 |
| 36776921 | 2023 | Silencing MYOT Expression May Inhibit Autophagy in Human Skeletal Muscle Cells. | 1 |
| 37511242 | 2023 | Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish. | 2 |
| 37553249 | 2023 | A novel in-frame deletion in MYOT causes an early adult onset distal myopathy. | 1 |
| 28638118 | 2017 | Conformational plasticity and evolutionary analysis of the myotilin tandem Ig domains. | 7 |
| 28638118 | 2017 | Conformational plasticity and evolutionary analysis of the myotilin tandem Ig domains. | 7 |
| 27854214 | 2016 | Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy. | 3 |
| 27854214 | 2016 | Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy. | 3 |
| 24928145 | 2014 | Novel recessive myotilin mutation causes severe myofibrillar myopathy. | 9 |
| 24928145 | 2014 | Novel recessive myotilin mutation causes severe myofibrillar myopathy. | 9 |
| 21361873 | 2011 | Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations. | 10 |
| 21361873 | 2011 | Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations. | 10 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
Citation
Dessen P
MYOT (myotilin)
Atlas Genet Cytogenet Oncol Haematol. 2009-06-01
Online version: http://atlasgeneticsoncology.org/gene/50939/myot
