MYLK2

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Myosin light chain kinase 2
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols MYLK2 ; KMLC; MLCK; MLCK2; skMLCK
External IDs OMIM606566 MGI2139434 HomoloGene13223 ChEMBL: 2777 GeneCards: MYLK2 Gene
EC number 2.7.11.18
Orthologs
Species Human Mouse
Entrez 85366 228785
Ensembl ENSG00000101306 ENSMUSG00000027470
UniProt Q9H1R3 Q8VCR8
RefSeq (mRNA) NM_033118 NM_001081044
RefSeq (protein) NP_149109 NP_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[edit]

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[edit]

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

References[edit]

  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". 
  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[edit]

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