GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
Gene ID: 338328, updated on 2-Nov-2024Gene type: protein coding
Also known as: HYPL1D; GPI-HBP1
- See all available tests in GTR for this gene
- Go to complete Gene record for GPIHBP1
- Go to Variation Viewer for GPIHBP1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Hyperlipoproteinemia, type 1D | See labs |
Genomic context
- Location:
- 8q24.3
- Sequence:
- Chromosome: 8; NC_000008.11 (143213218..143217170)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GPIHBP1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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