MYLK2

Myosin light chain kinase 2 also known as MYLK2 is an enzyme which in humans is encoded by the MYLK2 gene.[5]

MYLK2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMYLK2, KMLC, MLCK, MLCK2, skMLCK, myosin light chain kinase 2
External IDsOMIM: 606566 MGI: 2139434 HomoloGene: 13223 GeneCards: MYLK2
Gene location (Human)
Chr.Chromosome 20 (human)[1]
Band20q11.21Start31,819,308 bp[1]
End31,834,689 bp[1]
Orthologs
SpeciesHumanMouse
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: 31.82 – 31.83 MbChr 2: 152.91 – 152.92 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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

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

References

  1. GRCh38: Ensembl release 89: ENSG00000101306 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000027470 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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. S2CID 778253.
  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 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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