MYLK2

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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

PDBOrtholog search: PDBe RCSB
AliasesMYLK2, KMLC, MLCK, MLCK2, skMLCK, myosin light chain kinase 2
Quick facts Available structures, PDB ...
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; OMA:MYLK2 - orthologs
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: 152.75 – 152.76 Mb
PubMed search[3][4]
Wikidata
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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

Further reading

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