MYF6 Antibody – Mouse Monoclonal

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]

Myf-6: Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein. Defects in MYF6 may be a cause of centronuclear myopathy type 3 (CNM3). A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers.

Protein type: DNA-binding; Transcription factor

Chromosomal Location of Human Ortholog: 12q21.31

Cellular Component: nucleoplasm; nucleus

Molecular Function: protein heterodimerization activity; RNA polymerase II transcription factor activity, enhancer binding; transcription factor activity

Biological Process: muscle cell fate commitment; positive regulation of muscle cell differentiation; positive regulation of myoblast differentiation; positive regulation of skeletal muscle fiber development; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; skeletal muscle development

Disease: Myopathy, Centronuclear, 3