Disease-gene associations mined from literature

Literature associating MYL2 and congenital fiber-type disproportion

MYL2 [ENSP00000228841]

Myosin regulatory light chain 2, ventricular/cardiac muscle isoform; Contractile protein that plays a role in heart development and function (By similarity). Following phosphorylation, plays a role in cross-bridge cycling kinetics and cardiac muscle contraction by increasing myosin lever arm stiffness and promoting myosin head diffusion; as a consequence of the increase in maximum contraction force and calcium sensitivity of contraction force. These events altogether slow down myosin kinetics and prolong duty cycle resulting in accumulated myosins being cooperatively recruited to actin binding sites to sustain thin filament activation as a means to fine-tune myofilament calcium sensitivity to force (By similarity). During cardiogenesis plays an early role in cardiac contractility by promoting cardiac myofibril assembly (By similarity); EF-hand domain containing

Synonyms:  MYL2,  MYL2p,  hMYL2,  G3V1V8,  MYL2-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM