Myosin Light Chain Kinase 2 (MYLK2)

KMLC; skMLCK; MLCK2; Skeletal Muscle Myosin Light Chain Kinase; Myosin light chain kinase 2, skeletal/cardiac muscle

SPN	T354
HGNC	16243
MGI	2139434
PubMed	16448786
RGD	620934
UniProt	Q9H1R3
Wiki	MYLK2

MYLK2 is a myosin light chain kinase, a calcium / calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle.

Defects in MYLK2 are a cause of cardiomyopathy familial hypertrophic (CMH); also designated FHC or HCM. Familial hypertrophic cardiomyopathy is 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.

Reference

"The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation."
Cell 107:631-641(2001) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and comparative analysis of human chromosome 20."
Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Structural features of the complexes formed by Scherffelia dubia centrin."
Submitted (JAN-2011) to the PDB data bank

"Patterns of somatic mutation in human cancer genomes."
Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]