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

Gene: MYLK-AS1

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 3

Location in Chromosome : 3q21.1

Description of this Gene: MYLK antisense RNA 1

Type of Gene: ncRNA

rs387906781 in MYLK;MYLK-AS1 gene and AORTIC ANEURYSM, FAMILIAL THORACIC 7 PMID 21055718 2010 Mutations in myosin light chain kinase cause familial aortic dissections.