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myosin light chain kinase 2, skeletal muscle
Identifiers
Symbol MYLK2
Entrez 85366
HUGO 16243
OMIM 606566
RefSeq NM_033118
UniProt Q9H1R3
Other data
EC number 2.7.11.18
Locus Chr. 20 q13.31

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]

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. doi:10.1016/S0092-8674(01)00586-4. PMID 11733062.  
  2. ^ "Entrez Gene: MYLK2 myosin light chain kinase 2, skeletal muscle". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=85366.  

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


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