
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
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)