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MYH6

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Myosin, heavy chain 6, cardiac muscle, alpha

PDB rendering based on 2fxm.
Identifiers
Symbols MYH6; ASD3; CMD1EE; CMH14; MYHC; MYHCA; alpha-MHC
External IDs OMIM: 160710 MGI: 97255 HomoloGene: 124414 GeneCards: MYH6 Gene
RNA expression pattern
PBB GE MYH6 204737 s at tn.png
PBB GE MYH6 214468 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 4624 17888
Ensembl ENSG00000197616 ENSMUSG00000040752
UniProt P13533 Q1WNP4
RefSeq (mRNA) NM_002471 NM_010856
RefSeq (protein) NP_002462 NP_034986
Location (UCSC) Chr 14:
23.85 – 23.88 Mb		 Chr 14:
55.56 – 55.59 Mb
PubMed search [1] [2]

Myosin-6 is a protein that in humans is encoded by the MYH6 gene.[1][2]

Contents

Function

Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located ~4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin.[2]

Clinical significance

Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3.[2]

References

  1. ^ Tanigawa G, Jarcho JA, Kass S, Solomon SD, Vosberg HP, Seidman JG, Seidman CE (Oct 1990). "A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene". Cell 62 (5): 991–8. doi:10.1016/0092-8674(90)90273-H. PMID 2144212. 
  2. ^ a b c "Entrez Gene: MYH6 myosin, heavy chain 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4624. 

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. doi:10.1016/0006-291X(91)91707-J. 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. PMC 1683877. PMID 1975475. 
  • Ehrlich PH, Moustafa ZA, Ostberg L (1991). "Nucleotide sequence of chimpanzee Fc and hinge regions.". Mol. Immunol. 28 (4–5): 319–22. doi:10.1016/0161-5890(91)90143-8. PMID 2062315. 
  • 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. doi:10.1073/pnas.86.10.3504. PMC 287166. 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. doi:10.1172/JCI113627. PMC 303543. 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. doi:10.1093/nar/15.13.5443. PMC 305971. 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. doi:10.1016/S0888-7543(11)80006-6. 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. PMC 1886840. 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. doi:10.1172/JCI119776. PMC 508434. 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. doi:10.1007/s004410100400. 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. doi:10.1161/hc0402.102990. 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. PMC 139241. 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. 

External links

v · d · eProteins of the cytoskeleton
Human
A1, A2, B, C1, G1, G2
I (MYO1A, MYO1B, MYO1C, MYO1D, MYO1E, MYO1F, MYO1G, MYO1H) · II (MYH1, MYH2, MYH3, MYH4, MYH6, MYH7, MYH7B, MYH8, MYH9, MYH10, MYH11, MYH13, MYH14, MYH15, MYH16) · III (MYO3A, MYO3B) · V (MYO5A, MYO5B, MYO5C) · VI (MYO6) · VII (MYO7A, MYO7B) · IX (MYO9A, MYO9B) · X (MYO10) · XV (MYO15A) · XVIII (MYO18A, MYO18B) · LC (MYL1, MYL2, MYL3, MYL4, MYL5, MYL6, MYL6B, MYL7, MYL9, MYLIP, MYLK, MYLK2, MYLL1)
Other

Tropomodulin (1, 2, 3, 4) · Troponin (T 1 2 3, C 1 2, I 1 2 3) · Tropomyosin (1, 2, 3, 4)

Actinin (1, 2, 3, 4) · Arp2/3 complex · actin depolymerizing factors (Cofilin (1, 2) · Destrin) · Gelsolin · Profilin (1, 2) · Titin
Other
Type 1/2
(Keratin,
Cytokeratin)
Epithelial keratins
(soft alpha-keratins)

type I/chromosome 17 (10, 12, 13, 14, 15, 16, 17, 19, 20) · chromosome 12 (18) · none (21)

type II/chromosome 12 (1, 2A, 3, 4, 5, 6A, 6B, 7, 8, 9)
Hair keratins
(hard alpha-keratins)
Ungrouped alpha
Not alpha
Type 3
Type 4
Type 5
Lamin A, B
KIF1A, KIF1B, KIF2A, KIF2C, KIF3B, KIF3C, KIF4A, KIF4B, KIF5A, KIF5B, KIF5C, KIF6, KIF7, KIF9, KIF11, KIF12, KIF13A, KIF13B, KIF14, KIF15, KIF16B, KIF17, KIF18A, KIF18B, KIF19, KIF20A, KIF20B, KIF21A, KIF21B, KIF22, KIF23, KIF24, KIF25, KIF26A, KIF26B, KIF27, KIFC1, KIFC2, KIFC3

axonemal: DNAH1, DNAH2, DNAH3, DNAH5, DNAH6, DNAH7, DNAH8, DNAH9, DNAH10, DNAH11, DNAH12, DNAH13, DNAH14, DNAH17, DNAI1, DNAI2, DNALI1, DNAL1, DNAL4

cytoplasmic: DYNC1H1, DYNC2H1, DYNC1I1, DYNC1I2, DYNC1LI1, DYNC1LI2, DYNC2LI1, DYNLL1, DYNLL2, DYNLRB1, DYNLRB2, DYNLT1, DYNLT3
Other
Tau protein · Dynactin (DCTN1) · Tubulins (TUBA1A, TUBA1B, TUBA1C, TUBA3C, TUBA3D, TUBA3E, TUBA4A, TUBA8) · Stathmin · Tektin (TEKT1, TEKT2, TEKT3, TEKT4, TEKT5) · Dynamin (DNM1, DNM2, DNM3)
Other
Nonhuman
see also cytoskeletal defects
B strc: edmb (perx), skel (ctrs), epit, cili, mito, nucl (chro)
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