MYL1 gene

myosin light chain 1

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

From NCBI Gene:

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]

From UniProt:

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

From NCBI Gene:

  • Congenital myopathy with reduced type 2 muscle fibers

From UniProt:

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. [MIM:618414]

Cytogenetic Location: 2q34, which is the long (q) arm of chromosome 2 at position 34

Molecular Location: base pairs 210,290,150 to 210,315,174 on chromosome 2 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 2q34, which is the long (q) arm of chromosome 2 at position 34
  • MLC1F
  • MLC3F
  • MYOFTA