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Contents

   



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1 Function  





2 References  





3 Further reading  














MYH3






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From Wikipedia, the free encyclopedia
 


MYH3
Identifiers
AliasesMYH3, HEMHC, MYHC-EMB, MYHSE1, SMHCE, DA2A, DA2B, DA8, myosin, heavy chain 3, skeletal muscle, embryonic, myosin heavy chain 3, CPSKF1A, DA2B3, CPSKF1B, CPSFS1B, CPSFS1A
External IDsOMIM: 160720; MGI: 1339709; HomoloGene: 20553; GeneCards: MYH3; OMA:MYH3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002470

NM_001099635

RefSeq (protein)

NP_002461

NP_001093105

Location (UCSC)Chr 17: 10.63 – 10.66 MbChr 11: 66.97 – 66.99 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Myosin-3 is a protein that in humans is encoded by the MYH3 gene.[5][6]

Function[edit]

Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysisofATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes,[7] Freeman–Sheldon syndrome and Sheldon–Hall syndrome.[6]

References[edit]

  • ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  • ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  • ^ Eller M, Stedman HH, Sylvester JE, Fertels SH, Rubinstein NA, Kelly AM, Sarkar S (May 1989). "Nucleotide sequence of full length human embryonic myosin heavy chain cDNA". Nucleic Acids Research. 17 (9): 3591–2. doi:10.1093/nar/17.9.3591. PMC 317805. PMID 2726495.
  • ^ a b "Entrez Gene: MYH3 myosin, heavy chain 3, skeletal muscle, embryonic".
  • ^ Alvarado DM, Buchan JG, Gurnett CA, Dobbs MB (Jun 2011). "Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1". The Journal of Bone and Joint Surgery. American Volume. 93 (11): 1045–50. doi:10.2106/JBJS.J.02004. PMC 3102311. PMID 21531865.
  • Further reading[edit]

  • Karsch-Mizrachi I, Travis M, Blau H, Leinwand LA (Aug 1989). "Expression and DNA sequence analysis of a human embryonic skeletal muscle myosin heavy chain gene". Nucleic Acids Research. 17 (15): 6167–79. doi:10.1093/nar/17.15.6167. PMC 318269. PMID 2771643.
  • Eller M, Stedman HH, Sylvester JE, Fertels SH, Wu QL, Raychowdhury MK, Rubinstein NA, Kelly AM, Sarkar S (Oct 1989). "Human embryonic myosin heavy chain cDNA. Interspecies sequence conservation of the myosin rod, chromosomal locus and isoform specific transcription of the gene". FEBS Letters. 256 (1–2): 21–8. doi:10.1016/0014-5793(89)81710-7. PMID 2806546. S2CID 12047829.
  • Fu GK, Wang JT, Yang J, Au-Young J, Stuve LL (Jul 2004). "Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes". Genomics. 84 (1): 205–10. doi:10.1016/j.ygeno.2004.01.011. PMID 15203218.
  • Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S (Sep 2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Research. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC 515316. PMID 15342556.
  • Choy KW, Wang CC, Ogura A, Lau TK, Rogers MS, Ikeo K, Gojobori T, Lam DS, Pang CP (Mar 2006). "Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes". Physiological Genomics. 25 (1): 9–15. doi:10.1152/physiolgenomics.00121.2005. PMID 16368877.
  • Hundley AF, Yuan L, Visco AG (May 2006). "Skeletal muscle heavy-chain polypeptide 3 and myosin binding protein H in the pubococcygeus muscle in patients with and without pelvic organ prolapse". American Journal of Obstetrics and Gynecology. 194 (5): 1404–10. doi:10.1016/j.ajog.2006.01.049. PMID 16579921.
  • Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ (May 2006). "Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome". Nature Genetics. 38 (5): 561–5. doi:10.1038/ng1775. PMID 16642020. S2CID 8226091.

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    This page was last edited on 29 January 2023, at 07:30 (UTC).

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