MYF6 gene

myogenic factor 6

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein.

From NCBI Gene:

  • Myopathy, centronuclear, 3

From UniProt:

Myopathy, centronuclear, 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. [MIM:614408]

Cytogenetic Location: 12q21.31, which is the long (q) arm of chromosome 12 at position 21.31

Molecular Location: base pairs 80,707,629 to 80,709,478 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q21.31, which is the long (q) arm of chromosome 12 at position 21.31
  • bHLHc4
  • CNM3
  • MRF4
  • myf-6