MYLK2

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MYLK2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMYLK2, KMLC, MLCK, MLCK2, skMLCK, myosin light chain kinase 2
External IDsMGI: 2139434 HomoloGene: 13223 GeneCards: MYLK2
Gene location (Human)
Chromosome 20 (human)
Chr.Chromosome 20 (human)[1]
Chromosome 20 (human)
Genomic location for MYLK2
Genomic location for MYLK2
Band20q11.21Start31,819,308 bp[1]
End31,834,689 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_033118

NM_001081044

RefSeq (protein)

NP_149109

NP_001074513

Location (UCSC)Chr 20: 31.82 – 31.83 MbChr 2: 152.91 – 152.92 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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] 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.[7]

Clinical significance[edit]

Mutations in the MYLK2 gene have been linked to midventricular hypertrophic cardiomyopathy.[5]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000101306 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027470 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. 
  6. ^ "Entrez Gene: MYLK2 myosin light chain kinase 2, skeletal muscle". 
  7. ^ 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 3101293Freely accessible. PMID 21284933. 

Further reading[edit]

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