MYF6

MYF6
Identifiers
Aliases	MYF6, CNM3, MRF4, bHLHc4, myf-6, Myf6, myogenic factor 6
External IDs	MGI: 97253 HomoloGene: 1850 GeneCards: MYF6
Gene ontology Molecular function • DNA binding • protein dimerization activity • transcription factor activity, sequence-specific DNA binding • transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding • RNA polymerase II core promoter proximal region sequence-specific DNA binding • E-box binding • protein heterodimerization activity • transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding Cellular component • nucleoplasm • RNA polymerase II transcription factor complex • nucleus Biological process • somitogenesis • cell differentiation • regulation of transcription, DNA-templated • positive regulation of muscle cell differentiation • regulation of transcription from RNA polymerase II promoter • muscle cell fate commitment • muscle organ development • transcription from RNA polymerase II promoter • positive regulation of skeletal muscle fiber development • multicellular organism development • positive regulation of transcription, DNA-templated • positive regulation of myoblast fusion • skeletal muscle tissue regeneration • positive regulation of myoblast differentiation • muscle tissue morphogenesis • skeletal muscle cell differentiation • negative regulation of transcription, DNA-templated • skeletal muscle tissue development • positive regulation of transcription from RNA polymerase II promoter Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	4618	17878
Ensembl	ENSG00000111046	ENSMUSG00000035923
UniProt	P23409	P15375
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

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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

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

Mutations in the MYF6 gene are associated with myopathy.^[6]

References

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 551742. 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

• Braun, T.; Arnold, H. H. (1991). "The four human muscle regulatory helix-loop-helix proteins Myf3-Myf6 exhibit similar hetero-dimerization and DNA binding properties". Nucleic Acids Research. 19 (20): 5645–5651. doi:10.1093/nar/19.20.5645. PMC 328970. PMID 1945842.
• Langlands, K.; Yin, X.; Anand, G.; Prochownik, E. V. (1997). "Differential interactions of Id proteins with basic-helix-loop-helix transcription factors". The Journal of Biological Chemistry. 272 (32): 19785–19793. doi:10.1074/jbc.272.32.19785. PMID 9242638.
• Kong, Y.; Flick, M. J.; Kudla, A. J.; Konieczny, S. F. (1997). "Muscle LIM protein promotes myogenesis by enhancing the activity of MyoD". Molecular and Cellular Biology. 17 (8): 4750–4760. doi:10.1128/mcb.17.8.4750. PMC 232327. PMID 9234731.
• Onions, J.; Hermann, S.; Grundström, T. (2000). "A novel type of calmodulin interaction in the inhibition of basic helix-loop-helix transcription factors". Biochemistry. 39 (15): 4366–4374. doi:10.1021/bi992533u. PMID 10757985.
• Cupelli, L.; Renault, B.; Leblanc-Straceski, J.; Banks, A.; Ward, D.; Kucherlapati, R. S.; 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". Cytogenetics and cell genetics. 72 (2–3): 250–251. doi:10.1159/000134201. PMID 8978788.
• Kosek, D. J.; Kim, J. S.; Petrella, J. K.; Cross, J. M.; Bamman, M. M. (2006). "Efficacy of 3 days/wk resistance training on myofiber hypertrophy and myogenic mechanisms in young vs. Older adults". Journal of Applied Physiology. 101 (2): 531–544. doi:10.1152/japplphysiol.01474.2005. PMID 16614355.
• Black, B. L.; Molkentin, J. D.; Olson, E. N. (1998). "Multiple roles for the MyoD basic region in transmission of transcriptional activation signals and interaction with MEF2". Molecular and Cellular Biology. 18 (1): 69–77. doi:10.1128/mcb.18.1.69. PMC 121453. PMID 9418854.
• Braun, T.; Bober, E.; Winter, B.; Rosenthal, N.; Arnold, H. H. (1990). "Myf-6, a new member of the human gene family of myogenic determination factors: Evidence for a gene cluster on chromosome 12". The EMBO Journal. 9 (3): 821–831. PMC 551742. PMID 2311584.
• Kerst, B.; Mennerich, D.; Schuelke, M.; Stoltenburg-Didinger, G.; Von Moers, A.; Gossrau, R.; Van Landeghem, F. K.; Speer, A.; Braun, T.; Hübner, C. (2000). "Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy". Neuromuscular disorders : NMD. 10 (8): 572–577. doi:10.1016/S0960-8966(00)00150-4. PMID 11053684.

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