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MYL9

Chr 20q11.23

myosin light chain 9

Aliases:
MYRL2, MLC2, LC20, MRLC1
MANE:
ENST00000279022.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Paediatric pseudo-obstruction syndrome

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • megacystis-microcolon-intestinal hypoperistalsis syndrome 4

    0.57
  • diabetic ketoacidosis

    0.30
  • familial visceral myopathy

    0.29
  • visceral myopathy 1

    0.29
  • colorectal carcinoma

    0.11
  • neoplasm

    0.10
  • cancer

    0.09
  • colorectal cancer

    0.09
  • esophageal squamous cell carcinoma

    0.08
  • COVID-19

    0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Myosin regulatory light polypeptide 9

Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell locomotion (PubMed:11942626, PubMed:2526655). In myoblasts, may regulate PIEZO1-dependent cortical actomyosin assembly involved in myotube formation (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.