GPIHBP1

Chr 8AR

glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1

Also known as: GPI-HBP1, HYPL1D

NCBI Gene: 338328 ENSG00000277494 UniProt: Q8IV16 OMIM: 612757

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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a capillary endothelial cell protein that facilitates the lipolytic processing of triglyceride-rich lipoproteins. The encoded protein is a glycosylphosphatidylinositol-anchored protein that is a member of the lymphocyte antigen 6 (Ly6) family. This protein plays a major role in transporting lipoprotein lipase (LPL) from the subendothelial spaces to the capillary lumen. Mutations in this gene are the cause of hyperlipoproteinemia, type 1D. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Hyperlipoproteinemia, type 1DMIM #615947

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.10

LOEUF

Mechanism· predicted

📖

GeneReview available — GPIHBP1

Authoritative clinical overview · Recommended first read