MYF6 Chromosome 12
Myogenic factor 6
Upload your DNA to see your personal genotypes for variants in MYF6.
What This Gene Does
The protein encoded by this gene is a probable basic helix-loop-helix (bHLH) DNA binding protein involved in muscle differentiation. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of autosomal dominant centronuclear myopathy (ADCNM). [provided by RefSeq, May 2010]
Gene Info
Gene Group
"Basic helix-loop-helix proteins|Myogenic regulatory family"
Locus Type
gene with protein product
Location
12q21.31
Ensembl
ENSG00000111046
Associated Conditions (2)
Autosomal dominant centronuclear myopathy
MYF6-related disorder
Key Variants
RS143677057
Conflicting classifications of pathogenicity
Autosomal dominant centronuclear myopathy, Autosomal dominant centronuclear myopathy
Health Risk
RS147184101
Conflicting classifications of pathogenicity
Autosomal dominant centronuclear myopathy, Autosomal dominant centronuclear myopathy
Health Risk
RS28928909
Conflicting classifications of pathogenicity
Autosomal dominant centronuclear myopathy, MYF6-related disorder, Autosomal dominant centronuclear myopathy
Health Risk
RS578239628
Conflicting classifications of pathogenicity
Autosomal dominant centronuclear myopathy, Autosomal dominant centronuclear myopathy
Health Risk
RS747205109
Likely pathogenic
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143677057 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant centronuclear myopathy, Autosomal dominant centronuclear myopathy |
| RS147184101 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant centronuclear myopathy, Autosomal dominant centronuclear myopathy |
| RS28928909 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant centronuclear myopathy, MYF6-related disorder, Autosomal dominant centronuclear myopathy |
| RS578239628 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant centronuclear myopathy, Autosomal dominant centronuclear myopathy |
| RS747205109 | Health Risk | Likely pathogenic | — |