Protein-coding gene in the species Homo sapiens
Myosin light chain kinase 2 also known as MYLK2 is an enzyme which in humans is encoded by the MYLK2 gene .[5]
Function [ edit ] This gene encodes a myosin light chain kinase , a calcium / calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle.[6] myosin light chain kinase . This binding to skMLCK increases the affinity of Ca2+ and ultimately leads to a sustained muscle action.[7]
Clinical significance [ edit ] Mutations in the MYLK2 gene have been linked to midventricular hypertrophic cardiomyopathy .[5]
References [ edit ]
^ a b c GRCh38: Ensembl release 89: ENSG00000101306 - Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027470 - Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ a b Davis JS, Hassanzadeh S, Winitsky S, Lin H, Satorius C, Vemuri R, Aletras AH, Wen H, Epstein ND (November 2001). "The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation" . Cell . 107 (5): 631–41. doi :10.1016/S0092-8674(01)00586-4 PMID 11733062 . S2CID 778253 . ^ "Entrez Gene: MYLK2 myosin light chain kinase 2, skeletal muscle" .^ Stull JT, Kamm KE, Vandenboom R (February 2011). "Myosin light chain kinase and the role of myosin light chain phosphorylation in skeletal muscle" . Arch Biochem Biophys . 510 (2): 120–8. doi :10.1016/j.abb.2011.01.017 . PMC 3101293 PMID 21284933 .
Further reading [ edit ]
Jeronimo C, Forget D, Bouchard A (2007). "Systematic analysis of the protein interaction network for the human transcription machinery reveals the identity of the 7SK capping enzyme" . Mol. Cell . 27 (2): 262–74. doi :10.1016/j.molcel.2007.06.027 . PMC 4498903 PMID 17643375 . Junker JP, Rief M (2009). "Single-molecule force spectroscopy distinguishes target binding modes of calmodulin" . Proc. Natl. Acad. Sci. U.S.A . 106 (34): 14361–6. Bibcode :2009PNAS..10614361J . doi :10.1073/pnas.0904654106 PMC 2732892 PMID 19667195 . Roush CL, Kennelly PJ, Glaccum MB (1988). "Isolation of the cDNA encoding rat skeletal muscle myosin light chain kinase. Sequence and tissue distribution" . J. Biol. Chem . 263 (21): 10510–6. doi :10.1016/S0021-9258(19)81545-4 PMID 2839493 . Christie JD, Ma SF, Aplenc R (2008). "Variation in the myosin light chain kinase gene is associated with development of acute lung injury after major trauma". Crit. Care Med . 36 (10): 2794–800. doi :10.1097/CCM.0b013e318186b843 . PMID 18828194 . S2CID 6567908 . Lazar V, Garcia JG (1999). "A single human myosin light chain kinase gene (MLCK; MYLK)" . Genomics . 57 (2): 256–67. doi :10.1006/geno.1999.5774 PMID 10198165 . Gerhard DS, Wagner L, Feingold EA (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 . PMC 528928 PMID 15489334 . Deloukas P, Matthews LH, Ashurst J (2001). "The DNA sequence and comparative analysis of human chromosome 20" . Nature . 414 (6866): 865–71. Bibcode :2001Natur.414..865D . doi :10.1038/414865a PMID 11780052 . Soung YH, Lee JW, Kim SY (2006). "Mutational analysis of the kinase domain of MYLK2 gene in common human cancers". Pathol. Res. Pract . 202 (3): 137–40. doi :10.1016/j.prp.2005.12.003 . PMID 16448786 . Gallagher PJ, Herring BP, Stull JT (1997). "Myosin light chain kinases". J. Muscle Res. Cell. Motil . 18 (1): 1–16. doi :10.1023/A:1018616814417 . PMID 9147985 . S2CID 11975486 . Strausberg RL, Feingold EA, Grouse LH (2002). "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. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Lanfranchi G, Muraro T, Caldara F (1996). "Identification of 4370 expressed sequence tags from a 3'-end-specific cDNA library of human skeletal muscle by DNA sequencing and filter hybridization" . Genome Res . 6 (1): 35–42. doi :10.1101/gr.6.1.35 PMID 8681137 . Toth-Zsamboki E, Oury C, Cornelissen H (2003). "P2X1-mediated ERK2 activation amplifies the collagen-induced platelet secretion by enhancing myosin light chain kinase activation" . J. Biol. Chem . 278 (47): 46661–7. doi :10.1074/jbc.M308452200 PMID 14500714 .
This article incorporates text from the United States National Library of Medicine , which is in the public domain .
Activity Regulation Classification Kinetics Types
