APOA1
- Aliases
-
- APOA1
- Apo-AI
- ApoA-I
- Apolipoprotein A-I
- Apolipoprotein A1
- Apolipoproteins (Apo) A1
- MGC117399
- apolipoprotein A-I
- Description
- APOA1, a secreted protein belonging to the apolipoprotein A1/A4/E family, participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP complex, APOA1 activates spermatozoa motility. This protein is a major protein of plasma HDL and is also found in chylomicrons. It is synthesized in the liver and small intestine. Defects in APOA1 are a cause of several diseases: 1) high density lipoprotein deficiency type 2 (HDLD2), also known as familial hypoalphalipoproteinemia, for which inheritance is autosomal dominant; 2) the low HDL levels observed in high density lipoprotein deficiency type 1 (HDLD1), also known as analphalipoproteinemia or Tangier disease (TGD), a recessive disorder characterized by the absence of plasma HDL, accumulation of cholesteryl esters, premature coronary artery disease, hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness; 3) amyloid polyneuropathy-nephropathy Iowa type (AMYLIOWA), also known as amyloidosis van Allen type or familial amyloid polyneuropathy type III, a hereditary generalized amyloidosis due to deposition of amyloid mainly constituted by apolipoprotein A1; 4) amyloidosis type 8 (AMYL8), also known as systemic non-neuropathic amyloidosis or Ostertag-type amyloidosis, a hereditary generalized amyloidosis due to deposition of apolipoprotein A1, fibrinogen and lysozyme amyloids.
Attributes
- QA State
- Curated
- Type
- Proteomic
- HGNC Name
- APOA1
- Certifications
-
- None
- QA State for Breast
- Under Review
Non-Public Biomarker
Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.
- Certifications
-
- None
- QA State for Lung
Non-Public Biomarker
Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.
- Certifications
-
- None
- QA State for Ovary
- Curated
Non-Public Biomarker
Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.
- Certifications
-
- None
- QA State for Pancreas
- Under Review
Non-Public Biomarker
Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.
Non-Public Biomarker
Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.
- A framework for evaluating biomarkers for early detection: validation of biomarker panels for ovarian cancer.
- A targeted proteomics-based pipeline for verification of biomarkers in plasma.
- Ovarian cancer biomarker performance in prostate, lung, colorectal, and ovarian cancer screening trial specimens.
Non-Public Biomarker
Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.