MYLK2 gene

myosin light chain kinase 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Implicated in the level of global muscle contraction and cardiac function. Phosphorylates a specific serine in the N-terminus of a myosin light chain.

From NCBI Gene:

  • Familial hypertrophic cardiomyopathy 1

From UniProt:

Cardiomyopathy, familial hypertrophic (CMH): A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. [MIM:192600]

Cytogenetic Location: 20q13.31, which is the long (q) arm of chromosome 20 at position 13.31

Molecular Location: base pairs 31,819,375 to 31,834,697 on chromosome 20 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 20q13.31, which is the long (q) arm of chromosome 20 at position 13.31
  • KMLC
  • MLCK
  • MLCK2
  • skMLCK