APOA1 Chromosome 11
Apolipoprotein A1
Upload your DNA to see your personal genotypes for variants in APOA1.
What This Gene Does
This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
Apolipoproteins
Locus Type
gene with protein product
Location
11q23.3
Ensembl
ENSG00000118137
Associated Conditions (15)
Cardiovascular phenotype
Hypoalphalipoproteinemia
primary
1
Familial visceral amyloidosis
Ostertag type
2
Familial amyloid polyneuropathy
Iowa type
intermediate
Chronic kidney disease
APOLIPOPROTEIN A-I (MARBURG)
APOLIPOPROTEIN A-I (MUNSTER3C)
Hereditary spastic paraplegia 50
APOLIPOPROTEIN A-I (MILANO)
Key Variants
RS1285877841
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS138407155
Conflicting classifications of pathogenicity
Hypoalphalipoproteinemia, primary, 1
Health Risk
RS140770089
Conflicting classifications of pathogenicity
Hypoalphalipoproteinemia, primary, 1
Health Risk
RS1424419114
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1941541962
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS199759119
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypoalphalipoproteinemia, primary
Health Risk
RS200394039
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS532489785
Conflicting classifications of pathogenicity
Chronic kidney disease, Familial visceral amyloidosis, Ostertag type
Health Risk
RS574061789
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS746314593
Conflicting classifications of pathogenicity
Hypoalphalipoproteinemia, primary, 1
Health Risk
RS750125257
Conflicting classifications of pathogenicity
Familial visceral amyloidosis, Ostertag type, Hypoalphalipoproteinemia
Health Risk
RS753348565
Conflicting classifications of pathogenicity
Hypoalphalipoproteinemia, primary, 2
Health Risk
All Variants (44)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1285877841 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS138407155 | Health Risk | Conflicting classifications of pathogenicity | Hypoalphalipoproteinemia, primary, 1 |
| RS140770089 | Health Risk | Conflicting classifications of pathogenicity | Hypoalphalipoproteinemia, primary, 1 |
| RS1424419114 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1941541962 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS199759119 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Hypoalphalipoproteinemia, primary |
| RS200394039 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS532489785 | Health Risk | Conflicting classifications of pathogenicity | Chronic kidney disease, Familial visceral amyloidosis, Ostertag type |
| RS574061789 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS746314593 | Health Risk | Conflicting classifications of pathogenicity | Hypoalphalipoproteinemia, primary, 1 |
| RS750125257 | Health Risk | Conflicting classifications of pathogenicity | Familial visceral amyloidosis, Ostertag type, Hypoalphalipoproteinemia |
| RS753348565 | Health Risk | Conflicting classifications of pathogenicity | Hypoalphalipoproteinemia, primary, 2 |
| RS757899657 | Health Risk | Conflicting classifications of pathogenicity | Familial visceral amyloidosis, Ostertag type, Hypoalphalipoproteinemia |
| RS758509542 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS760255146 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Hypoalphalipoproteinemia, primary |
| RS760886281 | Health Risk | Conflicting classifications of pathogenicity | Familial visceral amyloidosis, Ostertag type, Hypoalphalipoproteinemia |
| RS772355721 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS779180385 | Health Risk | Conflicting classifications of pathogenicity | Hypoalphalipoproteinemia, primary, 2 |
| RS1591331259 | Health Risk | Likely pathogenic | Familial visceral amyloidosis, Ostertag type, Familial visceral amyloidosis |
| RS2134230655 | Health Risk | Likely pathogenic | Hypoalphalipoproteinemia, primary, 2 |
| RS2134231221 | Health Risk | Likely pathogenic | Hypoalphalipoproteinemia, primary, 2 |
| RS781350389 | Health Risk | Likely pathogenic | Hypoalphalipoproteinemia, primary, 2 |
| RS121912716 | Health Risk | Pathogenic | APOLIPOPROTEIN A-I (MARBURG), APOLIPOPROTEIN A-I (MARBURG) |
| RS121912718 | Health Risk | Pathogenic | Hypoalphalipoproteinemia, primary, 2 |
| RS121912720 | Health Risk | Pathogenic | APOLIPOPROTEIN A-I (MUNSTER3C), APOLIPOPROTEIN A-I (MUNSTER3C) |
| RS121912723 | Health Risk | Pathogenic | Hypoalphalipoproteinemia, primary, 2 |
| RS121912724 | Health Risk | Pathogenic | Familial amyloid polyneuropathy, Iowa type, Familial amyloid polyneuropathy |
| RS121912725 | Health Risk | Pathogenic | Hypoalphalipoproteinemia, primary, 2 |
| RS121912726 | Health Risk | Pathogenic | Familial amyloid polyneuropathy, Iowa type, Familial amyloid polyneuropathy |
| RS121912727 | Health Risk | Pathogenic | Hypoalphalipoproteinemia, primary, 2 |
| RS121912728 | Health Risk | Pathogenic | — |
| RS121912729 | Health Risk | Pathogenic | Familial amyloid polyneuropathy, Iowa type, Familial amyloid polyneuropathy |
| RS121912730 | Health Risk | Pathogenic | Familial amyloid polyneuropathy, Iowa type, Familial amyloid polyneuropathy |
| RS1373700967 | Health Risk | Pathogenic | — |
| RS1440319688 | Health Risk | Pathogenic | Hypoalphalipoproteinemia, primary, 2 |
| RS2134230434 | Health Risk | Pathogenic | — |
| RS2134231440 | Health Risk | Pathogenic | Familial amyloid polyneuropathy, Iowa type, Familial amyloid polyneuropathy |
| RS2134233729 | Health Risk | Pathogenic | Hereditary spastic paraplegia 50, Hypoalphalipoproteinemia, primary |
| RS28931573 | Health Risk | Pathogenic | APOLIPOPROTEIN A-I (MILANO), APOLIPOPROTEIN A-I (MILANO) |
| RS28931574 | Health Risk | Pathogenic | Familial amyloid polyneuropathy, Iowa type, Hypoalphalipoproteinemia |
| RS387906570 | Health Risk | Pathogenic | Hypoalphalipoproteinemia, primary, 2 |
| RS387906571 | Health Risk | Pathogenic | Familial amyloid polyneuropathy, Iowa type, Familial amyloid polyneuropathy |
| RS779081481 | Health Risk | Pathogenic | — |
| RS372520221 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Hypoalphalipoproteinemia, primary |