GPIHBP1 Chromosome 8
Glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
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What This Gene Does
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]
Gene Info
Gene Group
LY6/PLAUR domain containing
Locus Type
gene with protein product
Location
8q24.3
Ensembl
ENSG00000277494
Associated Conditions (5)
Hyperlipoproteinemia
type 1D
Cardiovascular phenotype
GPIHBP1-related disorder
type I
Key Variants
RS145844329
Conflicting classifications of pathogenicity
Hyperlipoproteinemia, type 1D, Cardiovascular phenotype
Health Risk
RS201685731
Conflicting classifications of pathogenicity
Hyperlipoproteinemia, type 1D, GPIHBP1-related disorder
Health Risk
RS556559035
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS578073937
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS759883512
Conflicting classifications of pathogenicity
Hyperlipoproteinemia, type 1D, Hyperlipoproteinemia
Health Risk
RS1284611659
Likely pathogenic
Hyperlipoproteinemia, type 1D, Hyperlipoproteinemia
Health Risk
RS2488909361
Likely pathogenic
Hyperlipoproteinemia, type 1D, Hyperlipoproteinemia
Health Risk
RS587777643
Likely pathogenic
Hyperlipoproteinemia, type 1D, Hyperlipoproteinemia
Health Risk
RS780340378
Likely pathogenic
Hyperlipoproteinemia, type 1D, Hyperlipoproteinemia
Health Risk
RS1014854435
Pathogenic
Health Risk
RS2130672651
Pathogenic
Hyperlipoproteinemia, type 1D, Hyperlipoproteinemia
Health Risk
RS587777637
Pathogenic
Hyperlipoproteinemia, type 1D, Hyperlipoproteinemia
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145844329 | Health Risk | Conflicting classifications of pathogenicity | Hyperlipoproteinemia, type 1D, Cardiovascular phenotype |
| RS201685731 | Health Risk | Conflicting classifications of pathogenicity | Hyperlipoproteinemia, type 1D, GPIHBP1-related disorder |
| RS556559035 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS578073937 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS759883512 | Health Risk | Conflicting classifications of pathogenicity | Hyperlipoproteinemia, type 1D, Hyperlipoproteinemia |
| RS1284611659 | Health Risk | Likely pathogenic | Hyperlipoproteinemia, type 1D, Hyperlipoproteinemia |
| RS2488909361 | Health Risk | Likely pathogenic | Hyperlipoproteinemia, type 1D, Hyperlipoproteinemia |
| RS587777643 | Health Risk | Likely pathogenic | Hyperlipoproteinemia, type 1D, Hyperlipoproteinemia |
| RS780340378 | Health Risk | Likely pathogenic | Hyperlipoproteinemia, type 1D, Hyperlipoproteinemia |
| RS1014854435 | Health Risk | Pathogenic | — |
| RS2130672651 | Health Risk | Pathogenic | Hyperlipoproteinemia, type 1D, Hyperlipoproteinemia |
| RS587777637 | Health Risk | Pathogenic | Hyperlipoproteinemia, type 1D, Hyperlipoproteinemia |
| RS587777638 | Health Risk | Pathogenic | Hyperlipoproteinemia, type 1D, Hyperlipoproteinemia |
| RS587777639 | Health Risk | Pathogenic | Hyperlipoproteinemia, type 1D, Hyperlipoproteinemia |
| RS587777640 | Health Risk | Pathogenic | Hyperlipoproteinemia, type 1D, Hyperlipoproteinemia |
| RS587777641 | Health Risk | Pathogenic | Hyperlipoproteinemia, type 1D, Hyperlipoproteinemia |
| RS587777642 | Health Risk | Pathogenic | Hyperlipoproteinemia, type 1D, Hyperlipoproteinemia |
| RS776388699 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1300685456 | Health Risk | Pathogenic/Likely pathogenic | Hyperlipoproteinemia, type 1D, Hyperlipoproteinemia |
| RS752728823 | Health Risk | Pathogenic/Likely pathogenic | Hyperlipoproteinemia, type 1D, Hyperlipoproteinemia |