MYL1

Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in fast skeletal muscle. Two transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]

Myosin Light Chain 1

Non-regulatory myosin light chain required for proper formation and/or maintenance of myofibers, and thus appropriate muscle function.

Muscle contraction Source: BHF-UCL
Muscle filament sliding Source: BHF-UCL

Cytoskeleton
muscle myosin complex
myosin II complex
Cytosol
Other locations
contractile fiber
myofibril
sarcomere

Myopathy, congenital, with fast-twitch type II fiber atrophy (MYOFTA):
An autosomal recessive congenital myopathy characterized by decreased fetal movements, severe muscle weakness and respiratory failure. Additional features include delayed motor development, areflexia, facial weakness, normal eye movements, head lag, and mild contractures. Skeletal muscle biopsy shows variation in fiber size with atrophy of the fast-twitch type II fibers.

Isoform MLC3:
Acetylated at position 2.