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Myosin-3 is a protein that in humans is encoded by the MYH3gene.[1][2]
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,[3]Freeman–Sheldon syndrome and Sheldon–Hall syndrome.[2]
Bober E, Buchberger-Seidl A, Braun T, Singh S, Goedde HW, Arnold HH (Apr 1990). "Identification of three developmentally controlled isoforms of human myosin heavy chains". European Journal of Biochemistry / FEBS. 189 (1): 55–65. doi:10.1111/j.1432-1033.1990.tb15459.x. PMID1691980.
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. PMID2806546.
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. PMID15203218.
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. PMID16368877.
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. PMID16579921.
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. PMID16642020.
