- MYL2
Myosin, light chain 2, regulatory, cardiac, slow, also known as MYL2, is a human
gene .cite web | title = Entrez Gene: MYL2 myosin, light chain 2, regulatory, cardiac, slow| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4633| accessdate = ]PBB_Summary
section_title =
summary_text = MYL2 encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in MYL2 are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy.cite web | title = Entrez Gene: MYL2 myosin, light chain 2, regulatory, cardiac, slow| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4633| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Macera MJ, Szabo P, Wadgaonkar R, "et al." |title=Localization of the gene coding for ventricular myosin regulatory light chain (MYL2) to human chromosome 12q23-q24.3. |journal=Genomics |volume=13 |issue= 3 |pages= 829–31 |year= 1992 |pmid= 1386340 |doi=
*cite journal | author=Dalla Libera L, Hoffmann E, Floroff M, Jackowski G |title=Isolation and nucleotide sequence of the cDNA encoding human ventricular myosin light chain 2. |journal=Nucleic Acids Res. |volume=17 |issue= 6 |pages= 2360 |year= 1989 |pmid= 2704627 |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=Wadgaonkar R, Shafiq S, Rajmanickam C, Siddiqui MA |title=Interaction of a conserved peptide domain in recombinant human ventricular myosin light chain-2 with myosin heavy chain. |journal=Cell. Mol. Biol. Res. |volume=39 |issue= 1 |pages= 13–26 |year= 1994 |pmid= 8287067 |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=Flavigny J, Richard P, Isnard R, "et al." |title=Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy. |journal=J. Mol. Med. |volume=76 |issue= 3-4 |pages= 208–14 |year= 1998 |pmid= 9535554 |doi=
*cite journal | author=Chew TL, Masaracchia RA, Goeckeler ZM, Wysolmerski RB |title=Phosphorylation of non-muscle myosin II regulatory light chain by p21-activated kinase (gamma-PAK). |journal=J. Muscle Res. Cell. Motil. |volume=19 |issue= 8 |pages= 839–54 |year= 1999 |pmid= 10047984 |doi=
*cite journal | author=Szczesna D, Ghosh D, Li Q, "et al." |title=Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation. |journal=J. Biol. Chem. |volume=276 |issue= 10 |pages= 7086–92 |year= 2001 |pmid= 11102452 |doi= 10.1074/jbc.M009823200
*cite journal | author=Tan I, Ng CH, Lim L, Leung T |title=Phosphorylation of a novel myosin binding subunit of protein phosphatase 1 reveals a conserved mechanism in the regulation of actin cytoskeleton. |journal=J. Biol. Chem. |volume=276 |issue= 24 |pages= 21209–16 |year= 2001 |pmid= 11399775 |doi= 10.1074/jbc.M102615200
*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=Wentz-Hunter K, Ueda J, Yue BY |title=Protein interactions with myocilin. |journal=Invest. Ophthalmol. Vis. Sci. |volume=43 |issue= 1 |pages= 176–82 |year= 2002 |pmid= 11773029 |doi=
*cite journal | author=Gerashchenko BI, Ueda K, Hino M, Hosoya H |title=Phosphorylation at threonine-18 in addition to phosphorylation at serine-19 on myosin-II regulatory light chain is a mitosis-specific event. |journal=Cytometry |volume=47 |issue= 3 |pages= 150–7 |year= 2002 |pmid= 11891719 |doi=
*cite journal | author=Ueda K, Murata-Hori M, Tatsuka M, Hosoya H |title=Rho-kinase contributes to diphosphorylation of myosin II regulatory light chain in nonmuscle cells. |journal=Oncogene |volume=21 |issue= 38 |pages= 5852–60 |year= 2002 |pmid= 12185584 |doi= 10.1038/sj.onc.1205747
*cite journal | author=Kabaeva ZT, Perrot A, Wolter B, "et al." |title=Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy. |journal=Eur. J. Hum. Genet. |volume=10 |issue= 11 |pages= 741–8 |year= 2003 |pmid= 12404107 |doi= 10.1038/sj.ejhg.5200872
*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=Mörner S, Richard P, Kazzam E, "et al." |title=Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. |journal=J. Mol. Cell. Cardiol. |volume=35 |issue= 7 |pages= 841–9 |year= 2004 |pmid= 12818575 |doi=
*cite journal | author=Sachdev S, Raychowdhury MK, Sarkar S |title=Human fast skeletal myosin light chain 2 cDNA: isolation, tissue specific expression of the single copy gene, comparative sequence analysis of isoforms and evolutionary relationships. |journal=DNA Seq. |volume=14 |issue= 5 |pages= 339–50 |year= 2004 |pmid= 14756420 |doi=
*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.2596504
*cite journal | author=Witt SH, Granzier H, Witt CC, Labeit S |title=MURF-1 and MURF-2 target a specific subset of myofibrillar proteins redundantly: towards understanding MURF-dependent muscle ubiquitination. |journal=J. Mol. Biol. |volume=350 |issue= 4 |pages= 713–22 |year= 2005 |pmid= 15967462 |doi= 10.1016/j.jmb.2005.05.021PBB_Controls
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