APOH Chromosome 17

Apolipoprotein H
1 variant 1 Health Risk

Upload your DNA to see your personal genotypes for variants in APOH.

What This Gene Does
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]
Gene Info
Gene Group
"Apolipoproteins|Sushi domain containing"
Locus Type
gene with protein product
Location
17q24.2
Ensembl
ENSG00000091583
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS398124629 Health Risk Likely pathogenic
Sign Up to Analyze Your DNA Log In