PDCD6IP
Chr 3ARprogrammed cell death 6 interacting protein
Also known as: AIP1, ALIX, DRIP4, HP95, MCPH29
This gene encodes a multifunctional protein that operates within the ESCRT pathway for endocytosis and multivesicular body biogenesis, functions in cytokinesis completion, and maintains tight junction integrity in epithelial cells. Mutations cause primary microcephaly 29, an autosomal recessive disorder characterized by reduced brain size present from birth. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.36), consistent with its essential cellular functions.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
162 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 0 | 18 | 0 | 19 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 96 | 3 | 0 | 99 |
Likely Benign | 0 | 2 | 0 | 2 | 4 |
Benign | 0 | 3 | 0 | 2 | 5 |
Conflicting | — | 2 | |||
| Total | 1 | 101 | 21 | 4 | 129 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PDCD6IP · 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