MYLK2

Chr 20

myosin light chain kinase 2

Also known as: KMLC, MLCK, MLCK2, skMLCK

NCBI Gene: 85366 ENSG00000101306 UniProt: Q9H1R3

This gene encodes a calcium/calmodulin-dependent myosin light chain kinase that phosphorylates myosin light chains to regulate muscle contraction and cardiac function, with exclusive expression in adult skeletal muscle. Mutations cause hypertrophic cardiomyopathy through digenic inheritance, meaning pathogenic variants in this gene work together with variants in another gene to cause disease. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.477), and there is a GeneReviews entry available for additional clinical guidance.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCardiomyopathy, familial hypertrophic

Clinical highlights

Gene-disease validity (ClinGen)

hypertrophic cardiomyopathy · ADDisputedevidence questions this relationship

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.48

LOEUF

Multiple*

Mechanism· predicted

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GeneReview available — MYLK2