- MYH3
Myosin, heavy chain 3, skeletal muscle, embryonic, also known as MYH3, is a human
gene .PBB_Summary
section_title =
summary_text = Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. 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, Freeman-Sheldon syndrome and Sheldon-Hall syndrome.cite web | title = Entrez Gene: MYH3 myosin, heavy chain 3, skeletal muscle, embryonic| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4621| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Bober E, Buchberger-Seidl A, Braun T, "et al." |title=Identification of three developmentally controlled isoforms of human myosin heavy chains. |journal=Eur. J. Biochem. |volume=189 |issue= 1 |pages= 55–65 |year= 1990 |pmid= 1691980 |doi=10.1111/j.1432-1033.1990.tb15459.x
*cite journal | author=Eller M, Stedman HH, Sylvester JE, "et al." |title=Nucleotide sequence of full length human embryonic myosin heavy chain cDNA. |journal=Nucleic Acids Res. |volume=17 |issue= 9 |pages= 3591–2 |year= 1989 |pmid= 2726495 |doi=10.1093/nar/17.9.3591
*cite journal | author=Karsch-Mizrachi I, Travis M, Blau H, Leinwand LA |title=Expression and DNA sequence analysis of a human embryonic skeletal muscle myosin heavy chain gene. |journal=Nucleic Acids Res. |volume=17 |issue= 15 |pages= 6167–79 |year= 1989 |pmid= 2771643 |doi=10.1093/nar/17.15.6167
*cite journal | author=Eller M, Stedman HH, Sylvester JE, "et al." |title=Human embryonic myosin heavy chain cDNA. Interspecies sequence conservation of the myosin rod, chromosomal locus and isoform specific transcription of the gene. |journal=FEBS Lett. |volume=256 |issue= 1-2 |pages= 21–8 |year= 1989 |pmid= 2806546 |doi=10.1016/0014-5793(89)81710-7
*cite journal | author=Fu GK, Wang JT, Yang J, "et al." |title=Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes. |journal=Genomics |volume=84 |issue= 1 |pages= 205–10 |year= 2005 |pmid= 15203218 |doi= 10.1016/j.ygeno.2004.01.011
*cite journal | author=Suzuki Y, Yamashita R, Shirota M, "et al." |title=Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. |journal=Genome Res. |volume=14 |issue= 9 |pages= 1711–8 |year= 2004 |pmid= 15342556 |doi= 10.1101/gr.2435604
*cite journal | author=Choy KW, Wang CC, Ogura A, "et al." |title=Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes. |journal=Physiol. Genomics |volume=25 |issue= 1 |pages= 9–15 |year= 2007 |pmid= 16368877 |doi= 10.1152/physiolgenomics.00121.2005
*cite journal | author=Hundley AF, Yuan L, Visco AG |title=Skeletal muscle heavy-chain polypeptide 3 and myosin binding protein H in the pubococcygeus muscle in patients with and without pelvic organ prolapse. |journal=Am. J. Obstet. Gynecol. |volume=194 |issue= 5 |pages= 1404–10 |year= 2006 |pmid= 16579921 |doi= 10.1016/j.ajog.2006.01.049
*cite journal | author=Toydemir RM, Rutherford A, Whitby FG, "et al." |title=Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. |journal=Nat. Genet. |volume=38 |issue= 5 |pages= 561–5 |year= 2006 |pmid= 16642020 |doi= 10.1038/ng1775PBB_Controls
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