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MYLK2

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Identifiers
SymbolsMYLK2 ; KMLC; MLCK; MLCK2; skMLCK
External IDsOMIM606566 MGI2139434 HomoloGene13223 IUPHAR: 1553 ChEMBL: 2777 GeneCards: MYLK2 Gene
EC number2.7.11.18
Orthologs
SpeciesHumanMouse
Entrez85366228785
EnsemblENSG00000101306ENSMUSG00000027470
UniProtQ9H1R3Q8VCR8
RefSeq (mRNA)NM_033118NM_001081044
RefSeq (protein)NP_149109NP_001074513
Location (UCSC)Chr 20:
30.41 – 30.42 Mb
Chr 2:
152.91 – 152.92 Mb
PubMed search[1][2]

Myosin light chain kinase 2 also known as MYLK2 is an enzyme which in humans is encoded by the MYLK2 gene.[1]

Function

This gene encodes a myosin light chain kinase, a calcium / calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle.[2] The MYLK2 gene expresses skMLCK more prevalently in fast twitch muscle fibers as compared to slow twitch muscle fibers. Calmodulin is composed of two terminal domains (N,C) each containing two E-F hand motifs that bind to Ca2+. Upon saturation of Ca2+, Calmodulin undergoes a conformation change allowing it to bind with a target protein such as skMLCK. An image depicting a similar complex (sdCen/skMLCK2) is shown under myosin light chain kinase. This binding to skMLCK increases the affinity of Ca2+ and ultimately leads to a sustained muscle action.[3]

Clinical significance

Mutations in the MYLK2 gene have been linked to midventricular hypertrophic cardiomyopathy.[1]

References

  1. ^ 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. PMID 11733062. doi:10.1016/S0092-8674(01)00586-4. 
  2. ^ "Entrez Gene: MYLK2 myosin light chain kinase 2, skeletal muscle". 
  3. ^ 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. PMC 3101293. PMID 21284933. doi:10.1016/j.abb.2011.01.017. 

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.Template:Gene-20-stub