Gene: MYLK

Alternate names for this Gene: AAT7|KRP|MLCK|MLCK1|MLCK108|MLCK210|MMIHS|MSTP083|MYLK1|smMLCK

Gene Summary: 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3q21.1

Description of this Gene: myosin light chain kinase

Type of Gene: protein-coding

rs1382893400 in MYLK gene and AORTIC ANEURYSM, FAMILIAL THORACIC 7 PMID 21055718 2010 Mutations in myosin light chain kinase cause familial aortic dissections.

PMID 28401540 2017 Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history.

PMID 24882528 2014 Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

rs1553787823 in MYLK gene and Abnormality of the bladder PMID 28602422 2017 Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

rs2682204 in MYLK gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs1553787823 in MYLK gene and Fetal megacystis PMID 28602422 2017 Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

rs1343700 in MYLK gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs1553787619 in MYLK gene and Megacystis PMID 28602422 2017 Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

rs1553787823 in MYLK gene and Microcolon PMID 28602422 2017 Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

rs2682204 in MYLK gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs1553787619 in MYLK gene and Visceral Myopathy PMID 28602422 2017 Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.