MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

  • Regulation of the force of heart contraction
  • Regulation of striated muscle contraction
  • Skeletal muscle tissue development
  • Muscle filament sliding
  • Positive regulation of ATPase activity
  • Cardiomyopathy, familial hypertrophic, 8
  • Hypertrophic cardiomyopathy
  • Rare cardiomyopathy
  • Atrial standstill 1
  • Restrictive cardiomyopathy
  • Restrictive Cardiomyopathy
  • Hypertrophic Cardiomyopathy
  • General Cardiomyopathy

Based on Ayass Bioscience, LLC Data Analysis

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

T=0.000072(9/125568,TOPMED)
T=0.000016(2/121398,ExAC)
T=0.00006(2/31388,GnomAD)
T=0.00008(1/13006,GO-ESP)
T=0.0001(1/8580,ALFAProject)