VPS33B
Chr 15ARVPS33B late endosome and lysosome associated
Also known as: KDIDAR, PFIC12
VPS33B encodes a protein that mediates vesicle trafficking to lysosomes and is required for proper collagen processing and maintenance of cellular polarity in epithelial cells. Mutations cause autosomal recessive disorders including arthrogryposis-renal dysfunction-cholestasis syndrome, progressive familial intrahepatic cholestasis type 12, and keratoderma-ichthyosis-deafness syndrome, affecting multiple organ systems including liver, kidney, skin, and musculoskeletal system. The gene shows extreme intolerance to loss-of-function variants (pLI near 1), indicating that complete protein loss is likely incompatible with normal development.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
VPS33B · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools