GULP1
Chr 2GULP PTB domain containing engulfment adaptor 1
Also known as: CED-6, CED6, GULP
GULP1 encodes an adapter protein required for efficient phagocytosis of apoptotic cells and modulates cellular glycosphingolipid and cholesterol transport. The gene shows high constraint against loss-of-function variants (LOEUF 0.459), suggesting mutations would likely cause significant clinical effects, but no specific Mendelian disease has been definitively associated with GULP1 variants to date. Based on the constraint metrics, any pathogenic variants would likely follow an autosomal dominant inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
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
GULP1 · 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