MYH6

From Wikipedia, the free encyclopedia

Myosin, heavy chain 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)

PDB rendering based on 2fxm.

Available structures: 2fxm, 2fxo

Identifiers

Symbol(s)

MYH6; ASD3; MYHC; MYHCA; alpha-MHC

External IDs

OMIM: 160710 MGI: 97255 HomoloGene: 37626

Gene ontology
Molecular Function:	• microfilament motor activity • nucleotide binding • actin binding • calmodulin binding • ATP binding • structural constituent of muscle • ATPase activity • actin-dependent ATPase activity
Cellular Component:	• muscle myosin complex • striated muscle thick filament • myosin complex • sarcomere
Biological Process:	• cardiac chronotropy • striated muscle contraction • adult heart development • muscle filament sliding • atrial cardiac muscle morphogenesis • ventricular cardiac muscle morphogenesis

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_002471 (mRNA)
NP_002462 (protein)

NM_010856 (mRNA)
NP_034986 (protein)

Location

Chr 14: 22.92 - 22.95 Mb

Chr 14: 53.9 - 53.92 Mb

Pubmed search

[1]

[2]

Myosin, heavy chain 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1), also known as MYH6, is a human gene.^[1]

[edit] References

^ Entrez Gene: MYH6 myosin, heavy chain 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1).

[edit] Further reading

Matsuoka R, Beisel KW, Furutani M, et al. (1992). "Complete sequence of human cardiac alpha-myosin heavy chain gene and amino acid comparison to other myosins based on structural and functional differences.". Am. J. Med. Genet. 41 (4): 537–47. doi:10.1002/ajmg.1320410435. PMID 1776652.
Brand NJ, Dabhade N, Yacoub M, Barton PJ (1991). "Determination of the 5' exon structure of the human cardiac alpha-myosin heavy chain gene.". Biochem. Biophys. Res. Commun. 179 (3): 1255–8. PMID 1930170.
Solomon SD, Geisterfer-Lowrance AA, Vosberg HP, et al. (1990). "A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI-L329 on chromosome 14 at q11-q12.". Am. J. Hum. Genet. 47 (3): 389–94. PMID 1975475.
Ehrlich PH, Moustafa ZA, Ostberg L (1991). "Nucleotide sequence of chimpanzee Fc and hinge regions.". Mol. Immunol. 28 (4-5): 319–22. PMID 2062315.
Tanigawa G, Jarcho JA, Kass S, et al. (1990). "A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene.". Cell 62 (5): 991–8. PMID 2144212.
Matsuoka R, Yoshida MC, Kanda N, et al. (1989). "Human cardiac myosin heavy chain gene mapped within chromosome region 14q11.2----q13.". Am. J. Med. Genet. 32 (2): 279–84. doi:10.1002/ajmg.1320320234. PMID 2494889.
Yamauchi-Takihara K, Sole MJ, Liew J, et al. (1989). "Characterization of human cardiac myosin heavy chain genes.". Proc. Natl. Acad. Sci. U.S.A. 86 (10): 3504–8. PMID 2726733.
Kurabayashi M, Tsuchimochi H, Komuro I, et al. (1988). "Molecular cloning and characterization of human cardiac alpha- and beta-form myosin heavy chain complementary DNA clones. Regulation of expression during development and pressure overload in human atrium.". J. Clin. Invest. 82 (2): 524–31. PMID 2969919.
Saez LJ, Gianola KM, McNally EM, et al. (1987). "Human cardiac myosin heavy chain genes and their linkage in the genome.". Nucleic Acids Res. 15 (13): 5443–59. PMID 3037493.
Epp TA, Dixon IM, Wang HY, et al. (1994). "Structural organization of the human cardiac alpha-myosin heavy chain gene (MYH6).". Genomics 18 (3): 505–9. PMID 8307559.
Shoeman RL, Sachse C, Höner B, et al. (1993). "Cleavage of human and mouse cytoskeletal and sarcomeric proteins by human immunodeficiency virus type 1 protease. Actin, desmin, myosin, and tropomyosin.". Am. J. Pathol. 142 (1): 221–30. PMID 8424456.
Nakao K, Minobe W, Roden R, et al. (1997). "Myosin heavy chain gene expression in human heart failure.". J. Clin. Invest. 100 (9): 2362–70. PMID 9410916.
Heidkamp MC, Russell B (2002). "Calcium not strain regulates localization of alpha-myosin heavy chain mRNA in oriented cardiac myocytes.". Cell Tissue Res. 305 (1): 121–7. PMID 11512664.
Niimura H, Patton KK, McKenna WJ, et al. (2002). "Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.". Circulation 105 (4): 446–51. PMID 11815426.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Gupta M, Sueblinvong V, Raman J, et al. (2004). "Single-stranded DNA-binding proteins PURalpha and PURbeta bind to a purine-rich negative regulatory element of the alpha-myosin heavy chain gene and control transcriptional and translational regulation of the gene expression. Implications in the repression of alpha-myosin heavy chain during heart failure.". J. Biol. Chem. 278 (45): 44935–48. doi:10.1074/jbc.M307696200. PMID 12933792.
Narolska NA, van Loon RB, Boontje NM, et al. (2005). "Myocardial contraction is 5-fold more economical in ventricular than in atrial human tissue.". Cardiovasc. Res. 65 (1): 221–9. doi:10.1016/j.cardiores.2004.09.029. PMID 15621050.
Ching YH, Ghosh TK, Cross SJ, et al. (2005). "Mutation in myosin heavy chain 6 causes atrial septal defect.". Nat. Genet. 37 (4): 423–8. doi:10.1038/ng1526. PMID 15735645.
Carniel E, Taylor MR, Sinagra G, et al. (2006). "Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy.". Circulation 112 (1): 54–9. doi:10.1161/CIRCULATIONAHA.104.507699. PMID 15998695.
Narolska NA, Eiras S, van Loon RB, et al. (2006). "Myosin heavy chain composition and the economy of contraction in healthy and diseased human myocardium.". J. Muscle Res. Cell. Motil. 26 (1): 39–48. doi:10.1007/s10974-005-9005-x. PMID 16088376.