MYLK2

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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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. 1.0 1.1 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.
  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. doi:10.1016/j.abb.2011.01.017. PMC 3101293. PMID 21284933.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.




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