MYO5A

Chr 15AR

myosin VA

Also known as: GS1, MYH12, MYO5, MYR12

NCBI Gene: 4644 ENSG00000197535 UniProt: Q9Y4I1 OMIM: 160777

This gene encodes a processive actin-based motor protein that transports melanosomes and vesicles to the plasma membrane and is involved in dendrite formation. Mutations cause Griscelli syndrome type 1, characterized by hypopigmentation and severe neurological abnormalities, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variation (pLI 0.94, LOEUF 0.30), reflecting its critical role in neuronal and melanocyte function.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1) and neuroectodermal melanolysosomal disease, or Elejalde disease. [provided by RefSeq, Sep 2023]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Griscelli syndrome, type 1MIM #214450

Clinical highlights

Gene-disease validity (ClinGen)

Griscelli syndrome type 1 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.29

LOEUF· LoF intol.

LOF

Mechanism· G2P