APOH apolipoprotein H
Gene ID: 350, updated on 28-Oct-2024Gene type: protein coding
Also known as: BG; B2G1; B2GP1
- See all available tests in GTR for this gene
- Go to complete Gene record for APOH
- Go to Variation Viewer for APOH variants
Summary
Apolipoprotein H, also known as beta-2-glycoprotein I, is a component of circulating plasma lipoproteins. It has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, hemostasis, and the production of antiphospholipid autoantibodies. APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome (APS). The anti-beta (2) glycoprotein I antibodies from APS patients, mediate inhibition of activated protein C which has anticoagulant properties. Because beta-2-GPI is the main autoantigen in patients with APS, the disruption of this pathway by autoantibodies may be an important mechanism for thrombosis in patients with APS.[provided by RefSeq, Dec 2019]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Genetic determinants of plasma β₂-glycoprotein I levels: a genome-wide association study in extended pedigrees from Spain. GeneReviews: Not available | |
| Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. GeneReviews: Not available |
Genomic context
- Location:
- 17q24.2
- Sequence:
- Chromosome: 17; NC_000017.11 (66212033..66229415, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for APOH variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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