MYF6

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Myogenic factor 6 (herculin)
Identifiers
Symbols MYF6 ; CNM3; MRF4; bHLHc4; myf-6
External IDs OMIM159991 HomoloGene1850 GeneCards: MYF6 Gene
Orthologs
Species Human Mouse
Entrez 4618 17878
Ensembl ENSG00000111046 ENSMUSG00000035923
UniProt P23409 P15375
RefSeq (mRNA) NM_002469 NM_008657
RefSeq (protein) NP_002460 NP_032683
Location (UCSC) Chr 12:
81.1 – 81.1 Mb
Chr 10:
107.49 – 107.49 Mb
PubMed search [1] [2]

Myogenic factor 6 (herculin) is a protein that in humans is encoded by the MYF6 gene. [1] Also known in the medical literature as MRF4 and herculin), MYF6 is a myogenic regulatory factor (MRF) in the process known as myogenesis.[2][3]

Function[edit]

MYF6 is a member of the myogenic factors (MYF) family that regulate myogenesis and muscle regeneration. Myogenic factor are basic helix-loop-helix (bHLH) transcription factors. Defects in this gene are a cause of autosomal dominant centronuclear myopathy (ADCNM).

Clinical significance[edit]

Mutations in the MYF6 gene are associated with myopathy.[4]

References[edit]

  1. ^ "Entrez Gene: Myogenic factor 6 (herculin)". Retrieved 2013-08-19. 
  2. ^ Braun T, Bober E, Winter B, Rosenthal N, Arnold HH (March 1990). "Myf-6, a new member of the human gene family of myogenic determination factors: evidence for a gene cluster on chromosome 12". EMBO J. 9 (3): 821–31. PMC 551742. PMID 2311584. 
  3. ^ Cupelli L, Renault B, Leblanc-Straceski J, Banks A, Ward D, Kucherlapati RS, Krauter K (1996). "Assignment of the human myogenic factors 5 and 6 (MYF5, MYF6) gene cluster to 12q21 by in situ hybridization and physical mapping of the locus between D12S350 and D12S106". Cytogenet. Cell Genet. 72 (2–3): 250–1. doi:10.1159/000134201. PMID 8978788. 
  4. ^ Kerst B, Mennerich D, Schuelke M, Stoltenburg-Didinger G, von Moers A, Gossrau R, van Landeghem FK, Speer A, Braun T, Hübner C (December 2000). "Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy". Neuromuscul. Disord. 10 (8): 572–7. doi:10.1016/S0960-8966(00)00150-4. PMID 11053684. 

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.