GPIHBP1
Chr 8ARglycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
Also known as: GPI-HBP1, HYPL1D
The encoded glycosylphosphatidylinositol-anchored protein transports lipoprotein lipase from the subendothelial spaces to the capillary lumen and anchors it on endothelial cell surfaces, facilitating triglyceride metabolism and lipid homeostasis. Mutations cause hyperlipoproteinemia type 1D, characterized by severe hypertriglyceridemia that typically presents in infancy with failure to thrive, recurrent pancreatitis, and eruptive xanthomas. This condition follows autosomal recessive inheritance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
GPIHBP1 · 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