MYF6

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MYF6
Identifiers
Aliases MYF6, CNM3, MRF4, bHLHc4, myf-6, Myf6, myogenic factor 6
External IDs MGI: 97253 HomoloGene: 1850 GeneCards: 4618
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002469

NM_008657

RefSeq (protein)

NP_002460.1

NP_032683.1

Location (UCSC) Chr 12: 80.71 – 80.71 Mb Chr 10: 107.49 – 107.49 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Myogenic factor 6 (herculin) is a protein that in humans is encoded by the MYF6 gene. [3] Also known in the medical literature as MRF4 and herculin), MYF6 is a myogenic regulatory factor (MRF) in the process known as myogenesis.[4][5]

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.[6]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ "Entrez Gene: Myogenic factor 6 (herculin)". Retrieved 2013-08-19. 
  4. ^ 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 551742free to read. PMID 2311584. 
  5. ^ 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. 
  6. ^ 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.