MYH3
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
Myosin-3 is a protein that in humans is encoded by the MYH3 gene.{{cite journal | vauthors = Eller M, Stedman HH, Sylvester JE, Fertels SH, Rubinstein NA, Kelly AM, Sarkar S | title = Nucleotide sequence of full length human embryonic myosin heavy chain cDNA | journal = Nucleic Acids Research | volume = 17 | issue = 9 | pages = 3591–2 | date = May 1989 | pmid = 2726495 | pmc = 317805 | doi = 10.1093/nar/17.9.3591 }}
Function
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,{{cite journal|author3-link=Christina Gurnett | vauthors = Alvarado DM, Buchan JG, Gurnett CA, Dobbs MB | title = Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1 | journal = The Journal of Bone and Joint Surgery. American Volume | volume = 93 | issue = 11 | pages = 1045–50 | date = Jun 2011 | pmid = 21531865 | pmc = 3102311 | doi = 10.2106/JBJS.J.02004 }} Freeman–Sheldon syndrome and Sheldon–Hall syndrome.{{cite web | title = Entrez Gene: MYH3 myosin, heavy chain 3, skeletal muscle, embryonic| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4621}}
References
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Further reading
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- {{cite journal | vauthors = Bober E, Buchberger-Seidl A, Braun T, Singh S, Goedde HW, Arnold HH | title = Identification of three developmentally controlled isoforms of human myosin heavy chains | journal = European Journal of Biochemistry | volume = 189 | issue = 1 | pages = 55–65 | date = Apr 1990 | pmid = 1691980 | doi = 10.1111/j.1432-1033.1990.tb15459.x | doi-access = free }}
- {{cite journal | vauthors = 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 Research | volume = 17 | issue = 15 | pages = 6167–79 | date = Aug 1989 | pmid = 2771643 | pmc = 318269 | doi = 10.1093/nar/17.15.6167 }}
- {{cite journal | vauthors = Eller M, Stedman HH, Sylvester JE, Fertels SH, Wu QL, Raychowdhury MK, Rubinstein NA, Kelly AM, Sarkar S | 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 Letters | volume = 256 | issue = 1–2 | pages = 21–8 | date = Oct 1989 | pmid = 2806546 | doi = 10.1016/0014-5793(89)81710-7 | s2cid = 12047829 | doi-access = free }}
- {{cite journal | vauthors = Fu GK, Wang JT, Yang J, Au-Young J, Stuve LL | title = Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes | journal = Genomics | volume = 84 | issue = 1 | pages = 205–10 | date = Jul 2004 | pmid = 15203218 | doi = 10.1016/j.ygeno.2004.01.011 }}
- {{cite journal | vauthors = Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S | title = Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions | journal = Genome Research | volume = 14 | issue = 9 | pages = 1711–8 | date = Sep 2004 | pmid = 15342556 | pmc = 515316 | doi = 10.1101/gr.2435604 }}
- {{cite journal | vauthors = Choy KW, Wang CC, Ogura A, Lau TK, Rogers MS, Ikeo K, Gojobori T, Lam DS, Pang CP | title = Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes | journal = Physiological Genomics | volume = 25 | issue = 1 | pages = 9–15 | date = Mar 2006 | pmid = 16368877 | doi = 10.1152/physiolgenomics.00121.2005 }}
- {{cite journal | vauthors = 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 = American Journal of Obstetrics and Gynecology | volume = 194 | issue = 5 | pages = 1404–10 | date = May 2006 | pmid = 16579921 | doi = 10.1016/j.ajog.2006.01.049 }}
- {{cite journal | vauthors = Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ | title = Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome | journal = Nature Genetics | volume = 38 | issue = 5 | pages = 561–5 | date = May 2006 | pmid = 16642020 | doi = 10.1038/ng1775 | s2cid = 8226091 }}
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{{Cytoskeletal Proteins}}
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