This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3′ region, it encodes telokin, a small protein identical in sequence to the C-terminus of myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated myosin filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants that produce four isoforms of the calcium/calmodulin dependent enzyme have been identified as well as two transcripts that produce two isoforms of telokin. Additional variants have been identified but lack full length transcripts. [provided by RefSeq, Jul 2008]

  • Protein phosphorylation
  • Muscle contraction
  • Smooth muscle contraction
  • Tonic smooth muscle contraction
  • Phosphorylation
  • Aortic aneurysm, familial thoracic 7
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome
  • Familial thoracic aortic aneurysm and aortic dissection
  • Visceral myopathy
  • Microcolon
  • General Aortopathy
  • Familial aortic anuerysm

Based on Ayass Bioscience, LLC Data Analysis

Emw. Structure of the MYLK protein. Based on PyMOL rendering of PDB 2cqv.

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