MYO5A

Chr 15AR

myosin VA

Also known as: GS1, MYH12, MYO5, MYR12

NCBI Gene: 4644ENSG00000197535UniProt: Q9Y4I1OMIM: 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.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.291 OMIM phenotype
Clinical Summary— MYO5A
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Gene-Disease Validity (ClinGen)
Griscelli syndrome type 1 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.94). One damaged copy is likely sufficient to cause disease.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint
0.29LOEUF
pLI 0.944
Z-score 7.71
OE 0.21 (0.15–0.29)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
3.10Z-score
OE missense 0.72 (0.68–0.77)
723 obs / 998.3 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.21 (0.15–0.29)
0≤0.351.4
Missense OE0.72 (0.68–0.77)
0≤0.61.4
Synonymous OE0.93
0≤1.21.6
LoF obs/exp: 23 / 110.5Missense obs/exp: 723 / 998.3Syn Z: 1.06

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MYO5A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
MYO5A-mediated stabilization promotes the acquisition of fusion competence in sealed autophagosomes.
Nambiar A et al.·EMBO J
2026Open Access
A novel, rapidly progressive ataxia due to a spontaneous Myo5a mutation in mice impairs transport proteins and alters mitochondria.
Telenson AM et al.·FASEB J
2025
Rare variant of large pediatric glioneuronal tumor with novel MYO5A::NTRK3 fusion: illustrative case.
Chenoweth D et al.·J Neurosurg Case Lessons
2024Open Access
MYO5A overexpression promotes invasion and correlates with low lymphocyte infiltration in head and neck squamous carcinoma.
Xing J et al.·BMC Cancer
2023Open Access
MYO5A Inhibition by miR-145 Acts as a Predictive Marker of Occult Neck Lymph Node Metastasis in Human Laryngeal Squamous Cell Carcinoma [Retraction].
·Onco Targets Ther
2023Open Access
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients