- MYL3
Myosin, light chain 3, alkali; ventricular, skeletal, slow, also known as MYL3, is a human
gene .cite web | title = Entrez Gene: MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4634| accessdate = ]PBB_Summary
section_title =
summary_text = MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy.cite web | title = Entrez Gene: MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4634| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Schaub MC, Hefti MA, Zuellig RA, Morano I |title=Modulation of contractility in human cardiac hypertrophy by myosin essential light chain isoforms. |journal=Cardiovasc. Res. |volume=37 |issue= 2 |pages= 381–404 |year= 1998 |pmid= 9614495 |doi=
*cite journal | author=Shi Q, Li RK, Mickle DA, Jackowski G |title=Analysis of the upstream regulatory region of human ventricular myosin light chain 1 gene. |journal=J. Mol. Cell. Cardiol. |volume=24 |issue= 11 |pages= 1221–9 |year= 1993 |pmid= 1479618 |doi=
*cite journal | author=Stragier P, Kunkel B, Kroos L, Losick R |title=Chromosomal rearrangement generating a composite gene for a developmental transcription factor. |journal=Science |volume=243 |issue= 4890 |pages= 507–12 |year= 1989 |pmid= 2536191 |doi=
*cite journal | author=Cohen-Haguenauer O, Barton PJ, Van Cong N, "et al." |title=Chromosomal assignment of two myosin alkali light-chain genes encoding the ventricular/slow skeletal muscle isoform and the atrial/fetal muscle isoform (MYL3, MYL4). |journal=Hum. Genet. |volume=81 |issue= 3 |pages= 278–82 |year= 1989 |pmid= 2784124 |doi=
*cite journal | author=Fodor WL, Darras B, Seharaseyon J, "et al." |title=Human ventricular/slow twitch myosin alkali light chain gene characterization, sequence, and chromosomal location. |journal=J. Biol. Chem. |volume=264 |issue= 4 |pages= 2143–9 |year= 1989 |pmid= 2789520 |doi=
*cite journal | author=Hoffmann E, Shi QW, Floroff M, "et al." |title=Molecular cloning and complete nucleotide sequence of a human ventricular myosin light chain 1. |journal=Nucleic Acids Res. |volume=16 |issue= 5 |pages= 2353 |year= 1988 |pmid= 3357795 |doi=
*cite journal | author=Kurabayashi M, Komuro I, Tsuchimochi H, "et al." |title=Molecular cloning and characterization of human atrial and ventricular myosin alkali light chain cDNA clones. |journal=J. Biol. Chem. |volume=263 |issue= 27 |pages= 13930–6 |year= 1988 |pmid= 3417683 |doi=
*cite journal | author=Henry GD, Trayer IP, Brewer S, Levine BA |title=The widespread distribution of alpha-N-trimethylalanine as the N-terminal amino acid of light chains from vertebrate striated muscle myosins. |journal=Eur. J. Biochem. |volume=148 |issue= 1 |pages= 75–82 |year= 1985 |pmid= 3979397 |doi=
*cite journal | author=Kovalyov LI, Shishkin SS, Efimochkin AS, "et al." |title=The major protein expression profile and two-dimensional protein database of human heart. |journal=Electrophoresis |volume=16 |issue= 7 |pages= 1160–9 |year= 1996 |pmid= 7498159 |doi=
*cite journal | author=Poetter K, Jiang H, Hassanzadeh S, "et al." |title=Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. |journal=Nat. Genet. |volume=13 |issue= 1 |pages= 63–9 |year= 1996 |pmid= 8673105 |doi= 10.1038/ng0596-63
*cite journal | author=Takeuchi K, Senba S, Furukawa K, "et al." |title=Localization of 17-kDa myosin light chain isoforms in cultured aortic smooth muscle cells. |journal=J. Biochem. |volume=125 |issue= 2 |pages= 334–42 |year= 1999 |pmid= 9990131 |doi=
*cite journal | author=Andersen PS, Havndrup O, Bundgaard H, "et al." |title=Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations. |journal=J. Med. Genet. |volume=38 |issue= 12 |pages= E43 |year= 2002 |pmid= 11748309 |doi=
*cite journal | author=Olson TM, Karst ML, Whitby FG, Driscoll DJ |title=Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology. |journal=Circulation |volume=105 |issue= 20 |pages= 2337–40 |year= 2002 |pmid= 12021217 |doi=
*cite journal | author=Moretti A, Weig HJ, Ott T, "et al." |title=Essential myosin light chain as a target for caspase-3 in failing myocardium. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 18 |pages= 11860–5 |year= 2002 |pmid= 12186978 |doi= 10.1073/pnas.182373099
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Richard P, Charron P, Carrier L, "et al." |title=Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. |journal=Circulation |volume=107 |issue= 17 |pages= 2227–32 |year= 2003 |pmid= 12707239 |doi= 10.1161/01.CIR.0000066323.15244.54
*cite journal | author=Xie B, Huang R, Huang L, "et al." |title=The functional domains of human ventricular myosin light chain 1. |journal=Biophys. Chem. |volume=106 |issue= 1 |pages= 57–66 |year= 2004 |pmid= 14516912 |doi=
*cite journal | author=Suzuki Y, Yamashita R, Shirota M, "et al." |title=Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. |journal=Genome Res. |volume=14 |issue= 9 |pages= 1711–8 |year= 2004 |pmid= 15342556 |doi= 10.1101/gr.2435604
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504PBB_Controls
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