RAB32
Chr 6ADRAB32, member RAS oncogene family
Also known as: PARK26
This small GTPase regulates intracellular membrane trafficking, anchors protein kinase A to mitochondria, and controls mitochondrial fission, phagosome maturation, and melanosome biogenesis. Mutations cause autosomal dominant Parkinson disease 26, with the gene showing low constraint to loss-of-function variants (pLI 0.0006, LOEUF 1.29). The protein also stimulates LRRK2-mediated phosphorylation of RAB10, linking it to other Parkinson disease pathways.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RAB32 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools