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MYO9A

Chr 15q23

myosin IXA

Aliases:
FLJ11061, FLJ13244, MGC71859
MANE:
ENST00000356056.10

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Congenital myaesthenic syndrome

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Arthrogryposis

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Presynaptic congenital myasthenic syndromes

    0.69
  • presynaptic congenital myasthenic syndrome

    0.40
  • placental abruption

    0.27
  • adverse effect

    0.26
  • liver disorder

    0.24
  • hereditary disease

    0.19
  • focal segmental glomerulosclerosis

    0.18
  • gout

    0.18
  • gastrointestinal disease

    0.16
  • Flexion contracture

    0.14

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

Protein function (UniProt)

Unconventional myosin-IXa

Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Regulates Rho by stimulating its GTPase activity in neurons. Required for the regulation of neurite branching and motor neuron axon guidance (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.