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]

  • Protein phosphorylation
  • Striated muscle contraction
  • Neuromuscular synaptic transmission
  • Positive regulation of gene expression
  • Skeletal muscle satellite cell differentiation

  • Cardiomyopathy, familial hypertrophic, 1
  • Hypertrophic cardiomyopathy
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • Left ventricular noncompaction
  • Long qt syndrome

  • General Cardiomyopathy
  • Hypertrophic Cardiomyopathy
  • General Aortopathy
  • Familial aortic anuerysm

Based on Ayass Bioscience, LLC Data Analysis

MYLK2 (myosin light chain kinase 2) – BioGPS

Interacting Proteins for MYLK2 Gene– String

Gene Location

HM-VUS Prevalence

% 0.0510725229826353

Ratio of samples with at least 1 High/Med VUS variant (Computed from Ayass Bioscience Samples)

High/Med VUS Variants

C=0.000044(11/250472,GnomAD_exome)
C=0.000159(20/125568,TOPMED)
C=0.000067(8/120072,ExAC)
C=0.00019(6/31382,GnomAD)
C=0.00023(3/12998,GO-ESP)
C=0.0000(0/2188,ALFAProject)