MYH3
Myosin-3 is a protein that in humans is encoded by the MYH3 gene.[1][2]
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]
References
- ↑ Eller M, Stedman HH, Sylvester JE, Fertels SH, Rubinstein NA, Kelly AM, Sarkar S (Jun 1989). "Nucleotide sequence of full length human embryonic myosin heavy chain cDNA". Nucleic Acids Res 17 (9): 3591–2. doi:10.1093/nar/17.9.3591. PMC 317805. PMID 2726495.
- ↑ 2.0 2.1 "Entrez Gene: MYH3 myosin, heavy chain 3, skeletal muscle, embryonic".
- ↑ Alvarado, DM; Buchan, JG, Gurnett, CA, Dobbs, MB (Apr 29, 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
- Bober E, Buchberger-Seidl A, Braun T et al. (1990). "Identification of three developmentally controlled isoforms of human myosin heavy chains". Eur. J. Biochem. 189 (1): 55–65. doi:10.1111/j.1432-1033.1990.tb15459.x. PMID 1691980.
- Karsch-Mizrachi I, Travis M, Blau H, Leinwand LA (1989). "Expression and DNA sequence analysis of a human embryonic skeletal muscle myosin heavy chain gene". Nucleic Acids Res. 17 (15): 6167–79. doi:10.1093/nar/17.15.6167. PMC 318269. PMID 2771643.
- Eller M, Stedman HH, Sylvester JE et al. (1989). "Human embryonic myosin heavy chain cDNA. Interspecies sequence conservation of the myosin rod, chromosomal locus and isoform specific transcription of the gene". FEBS Lett. 256 (1–2): 21–8. doi:10.1016/0014-5793(89)81710-7. PMID 2806546.
- Fu GK, Wang JT, Yang J et al. (2005). "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 et al. (2004). "Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC 515316. PMID 15342556.
- Choy KW, Wang CC, Ogura A et al. (2007). "Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes". Physiol. Genomics 25 (1): 9–15. doi:10.1152/physiolgenomics.00121.2005. PMID 16368877.
- Hundley AF, Yuan L, Visco AG (2006). "Skeletal muscle heavy-chain polypeptide 3 and myosin binding protein H in the pubococcygeus muscle in patients with and without pelvic organ prolapse". Am. J. Obstet. Gynecol. 194 (5): 1404–10. doi:10.1016/j.ajog.2006.01.049. PMID 16579921.
- Toydemir RM, Rutherford A, Whitby FG et al. (2006). "Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome". Nat. Genet. 38 (5): 561–5. doi:10.1038/ng1775. PMID 16642020.
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