MYL2
| Myosin, light chain 2, regulatory, cardiac, slow | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | MYL2 ; CMH10; DKFZp779C0562; MLC2 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 55462 | ||||||||||
| |||||||||||
| RNA expression pattern | |||||||||||
| File:PBB GE MYL2 209742 s at tn.png | |||||||||||
| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
| Ensembl | n/a | n/a | |||||||||
| UniProt | n/a | n/a | |||||||||
| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
| PubMed search | n/a | n/a | |||||||||
Myosin, light chain 2, regulatory, cardiac, slow, also known as MYL2, is a human gene.[1]
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.[1]
References
Further reading
- Macera MJ, Szabo P, Wadgaonkar R; et al. (1992). "Localization of the gene coding for ventricular myosin regulatory light chain (MYL2) to human chromosome 12q23-q24.3". Genomics. 13 (3): 829–31. PMID 1386340.
- Dalla Libera L, Hoffmann E, Floroff M, Jackowski G (1989). "Isolation and nucleotide sequence of the cDNA encoding human ventricular myosin light chain 2". Nucleic Acids Res. 17 (6): 2360. PMID 2704627.
- Kovalyov LI, Shishkin SS, Efimochkin AS; et al. (1996). "The major protein expression profile and two-dimensional protein database of human heart". Electrophoresis. 16 (7): 1160–9. PMID 7498159.
- Wadgaonkar R, Shafiq S, Rajmanickam C, Siddiqui MA (1994). "Interaction of a conserved peptide domain in recombinant human ventricular myosin light chain-2 with myosin heavy chain". Cell. Mol. Biol. Res. 39 (1): 13–26. PMID 8287067.
- Poetter K, Jiang H, Hassanzadeh S; et al. (1996). "Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle". Nat. Genet. 13 (1): 63–9. doi:10.1038/ng0596-63. PMID 8673105.
- Flavigny J, Richard P, Isnard R; et al. (1998). "Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy". J. Mol. Med. 76 (3–4): 208–14. PMID 9535554.
- Chew TL, Masaracchia RA, Goeckeler ZM, Wysolmerski RB (1999). "Phosphorylation of non-muscle myosin II regulatory light chain by p21-activated kinase (gamma-PAK)". J. Muscle Res. Cell. Motil. 19 (8): 839–54. PMID 10047984.
- Szczesna D, Ghosh D, Li Q; et al. (2001). "Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation". J. Biol. Chem. 276 (10): 7086–92. doi:10.1074/jbc.M009823200. PMID 11102452.
- Tan I, Ng CH, Lim L, Leung T (2001). "Phosphorylation of a novel myosin binding subunit of protein phosphatase 1 reveals a conserved mechanism in the regulation of actin cytoskeleton". J. Biol. Chem. 276 (24): 21209–16. doi:10.1074/jbc.M102615200. PMID 11399775.
- Andersen PS, Havndrup O, Bundgaard H; et al. (2002). "Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations". J. Med. Genet. 38 (12): E43. PMID 11748309.
- Wentz-Hunter K, Ueda J, Yue BY (2002). "Protein interactions with myocilin". Invest. Ophthalmol. Vis. Sci. 43 (1): 176–82. PMID 11773029.
- Gerashchenko BI, Ueda K, Hino M, Hosoya H (2002). "Phosphorylation at threonine-18 in addition to phosphorylation at serine-19 on myosin-II regulatory light chain is a mitosis-specific event". Cytometry. 47 (3): 150–7. PMID 11891719.
- Ueda K, Murata-Hori M, Tatsuka M, Hosoya H (2002). "Rho-kinase contributes to diphosphorylation of myosin II regulatory light chain in nonmuscle cells". Oncogene. 21 (38): 5852–60. doi:10.1038/sj.onc.1205747. PMID 12185584.
- Kabaeva ZT, Perrot A, Wolter B; et al. (2003). "Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy". Eur. J. Hum. Genet. 10 (11): 741–8. doi:10.1038/sj.ejhg.5200872. PMID 12404107.
- 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.
- Richard P, Charron P, Carrier L; et al. (2003). "Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy". Circulation. 107 (17): 2227–32. doi:10.1161/01.CIR.0000066323.15244.54. PMID 12707239.
- Mörner S, Richard P, Kazzam E; et al. (2004). "Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden". J. Mol. Cell. Cardiol. 35 (7): 841–9. PMID 12818575.
- Sachdev S, Raychowdhury MK, Sarkar S (2004). "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". DNA Seq. 14 (5): 339–50. PMID 14756420.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- Witt SH, Granzier H, Witt CC, Labeit S (2005). "MURF-1 and MURF-2 target a specific subset of myofibrillar proteins redundantly: towards understanding MURF-dependent muscle ubiquitination". J. Mol. Biol. 350 (4): 713–22. doi:10.1016/j.jmb.2005.05.021. PMID 15967462.
 | This protein-related article is a stub. You can help Wikipedia by expanding it. |