VBP1
Chr XVHL binding protein 1
Also known as: HIBBJ46, PFD3, PFDN3, VBP-1
The encoded protein functions as a chaperone that binds to nascent polypeptide chains to promote proper protein folding and specifically transfers target proteins to cytosolic chaperonin, while also forming a complex with Von Hippel-Lindau protein and potentially facilitating its subcellular transport. Pathogenic variants in VBP1 cause X-linked intellectual disability with microcephaly through loss-of-function mechanisms. The high pLI score (0.88) and low LOEUF score (0.43) indicate strong intolerance to loss-of-function variants, consistent with X-linked inheritance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
VBP1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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