MYH3

From Wikipedia, the free encyclopedia

Myosin, heavy chain 3, skeletal muscle, embryonic

Identifiers

MYH3; HEMHC; MYHC-EMB; MYHSE1; SMHCE

External IDs

OMIM: 160720 MGI: 1339709 HomoloGene: 20553

Gene ontology
Molecular Function:	• microfilament motor activity • nucleotide binding • actin binding • calmodulin binding • ATP binding • ATPase activity, coupled
Cellular Component:	• striated muscle thick filament • myosin complex
Biological Process:	• striated muscle contraction • muscle development • actin filament-based movement

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_002470 (mRNA)
NP_002461 (protein)

XM_354614 (mRNA)
XP_354614 (protein)

Location

Chr 17: 10.47 - 10.5 Mb

Chr 11: 66.9 - 66.92 Mb

Pubmed search

[1]

[2]

Myosin, heavy chain 3, skeletal muscle, embryonic, also known as MYH3, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: MYH3 myosin, heavy chain 3, skeletal muscle, embryonic.

[edit] 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. PMID 1691980.
Eller M, Stedman HH, Sylvester JE, et al. (1989). "Nucleotide sequence of full length human embryonic myosin heavy chain cDNA.". Nucleic Acids Res. 17 (9): 3591-2. PMID 2726495.
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. 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. 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. 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.