MYL1

Function

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

Involvement in disease

Congenital myopathy 14

CMYO14

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Isoform MLC3

Acetylated at position 2.

Alternative names

MLC1/MLC3, MLC1F/MLC3F, Myosin light chain alkali 1/2, Myosin light chain A1/A2, MYL1

Database links

swissprot:P05976 entrezGene:29895 entrezGene:4634 entrezGene:4632 swissprot:Q14324 omim:160790 omim:160780