NP_002460.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
26,953 Da
NCBI Official Full Name
myogenic factor 6
NCBI Official Synonym Full Names
myogenic factor 6 (herculin)
NCBI Protein Information
myogenic factor 6; muscle-specific regulatory factor 4; class C basic helix-loop-helix protein 4
UniProt Protein Name
Myogenic factor 6
UniProt Synonym Protein Names
Class C basic helix-loop-helix protein 4; bHLHc4; Muscle-specific regulatory factor 4
UniProt Synonym Gene Names
UniProt Entry Name
MYF6_HUMAN
NCBI Summary for MYF6
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]
UniProt Comments for MYF6
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: Transcription factor; DNA-binding
Chromosomal Location of Human Ortholog: 12q21
Cellular Component: nucleoplasm; nucleus
Molecular Function: RNA polymerase II transcription factor activity, enhancer binding; protein heterodimerization activity; transcription factor activity
Biological Process: regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; somitogenesis; skeletal muscle development; muscle cell differentiation; positive regulation of skeletal muscle fiber development; muscle cell fate commitment; positive regulation of muscle cell differentiation; skeletal muscle regeneration; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; positive regulation of myoblast differentiation
Disease: Myopathy, Centronuclear, 3
Research Articles on MYF6
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Products associated with MYF6 elisa kit
Pathways associated with MYF6 elisa kit
Diseases associated with MYF6 elisa kit
Organs/Tissues associated with MYF6 elisa kit
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