LPL Chromosome 8
Lipoprotein lipase
Upload your DNA to see your personal genotypes for variants in LPL.
What This Gene Does
LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Lipases
Locus Type
gene with protein product
Location
8p21.3
Ensembl
ENSG00000175445
Associated Conditions (13)
Hyperlipoproteinemia
type I
Cardiovascular phenotype
LPL-related disorder
Hyperlipidemia
familial combined
LPL related
Hypertriglyceridemia
susceptibility to
Dilated cardiomyopathy 1A
LIPOPROTEIN LIPASE (OLBIA)
Lipase deficiency
combined
Key Variants
RS114726797
Conflicting classifications of pathogenicity
Hyperlipoproteinemia, type I, Cardiovascular phenotype
Health Risk
RS116403115
Conflicting classifications of pathogenicity
Hyperlipoproteinemia, type I, Cardiovascular phenotype
Health Risk
RS1297688787
Conflicting classifications of pathogenicity
Hypertriglyceridemia, Hyperlipoproteinemia, type I
Health Risk
RS1389582732
Conflicting classifications of pathogenicity
Hyperlipidemia, familial combined, LPL related
Health Risk
RS140457997
Conflicting classifications of pathogenicity
Hyperlipoproteinemia, type I, Hyperlipoproteinemia
Health Risk
RS140986245
Conflicting classifications of pathogenicity
Hyperlipoproteinemia, type I, Cardiovascular phenotype
Health Risk
RS1425981651
Conflicting classifications of pathogenicity
Hyperlipoproteinemia, type I, Hyperlipoproteinemia
Health Risk
RS144466625
Conflicting classifications of pathogenicity
Hyperlipoproteinemia, type I, Hyperlipidemia
Health Risk
RS147309575
Conflicting classifications of pathogenicity
Hyperlipoproteinemia, type I, Cardiovascular phenotype
Health Risk
RS150319057
Conflicting classifications of pathogenicity
Hyperlipoproteinemia, type I, Hyperlipidemia
Health Risk
RS1800011
Conflicting classifications of pathogenicity
Hyperlipidemia, familial combined, LPL related
Health Risk
RS199606532
Conflicting classifications of pathogenicity
Hyperlipoproteinemia, type I, Cardiovascular phenotype
Health Risk
All Variants (147)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2128838491 | Health Risk | Pathogenic | — |
| RS2128838546 | Health Risk | Pathogenic | — |
| RS2128838569 | Health Risk | Pathogenic | — |
| RS2128839576 | Health Risk | Pathogenic | — |
| RS2540092267 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2540099804 | Health Risk | Pathogenic | — |
| RS2540099833 | Health Risk | Pathogenic | — |
| RS2540103224 | Health Risk | Pathogenic | — |
| RS2540104783 | Health Risk | Pathogenic | — |
| RS2540107104 | Health Risk | Pathogenic | — |
| RS2540107190 | Health Risk | Pathogenic | Cardiovascular phenotype, Hyperlipoproteinemia, type I |
| RS2540107223 | Health Risk | Pathogenic | Hyperlipoproteinemia, type I, Hyperlipoproteinemia |
| RS2540107246 | Health Risk | Pathogenic | — |
| RS2540107342 | Health Risk | Pathogenic | Hyperlipoproteinemia, type I, Hyperlipoproteinemia |
| RS2540109673 | Health Risk | Pathogenic | Hyperlipidemia, familial combined, LPL related |
| RS2540111345 | Health Risk | Pathogenic | — |
| RS2540111400 | Health Risk | Pathogenic | — |
| RS2540111558 | Health Risk | Pathogenic | — |
| RS2540111594 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS35414700 | Health Risk | Pathogenic | Hyperlipoproteinemia, type I, Cardiovascular phenotype |
| RS371282890 | Health Risk | Pathogenic | Hyperlipoproteinemia, type I, Hyperlipidemia |
| RS372668179 | Health Risk | Pathogenic | Hyperlipidemia, familial combined, LPL related |
| RS747009924 | Health Risk | Pathogenic | — |
| RS747786336 | Health Risk | Pathogenic | — |
| RS751554200 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS761886494 | Health Risk | Pathogenic | Hyperlipoproteinemia, type I, Cardiovascular phenotype |
| RS766134215 | Health Risk | Pathogenic | Hyperlipoproteinemia, type I, Hyperlipidemia |
| RS767027334 | Health Risk | Pathogenic | — |
| RS767366957 | Health Risk | Pathogenic | Hyperlipoproteinemia, type I, Cardiovascular phenotype |
| RS773407951 | Health Risk | Pathogenic | Hyperlipoproteinemia, type I, Hyperlipoproteinemia |
| RS118204057 | Health Risk | Pathogenic/Likely pathogenic | Hyperlipoproteinemia, type I, Hyperlipidemia |
| RS118204058 | Health Risk | Pathogenic/Likely pathogenic | Hyperlipoproteinemia, type I, Hyperlipoproteinemia |
| RS118204060 | Health Risk | Pathogenic/Likely pathogenic | Hyperlipoproteinemia, type I, Hyperlipidemia |
| RS118204062 | Health Risk | Pathogenic/Likely pathogenic | Hyperlipoproteinemia, type I, Hyperlipidemia |
| RS118204068 | Health Risk | Pathogenic/Likely pathogenic | Hyperlipoproteinemia, type I, Cardiovascular phenotype |
| RS118204069 | Health Risk | Pathogenic/Likely pathogenic | Hyperlipoproteinemia, type I, Hyperlipidemia |
| RS118204080 | Health Risk | Pathogenic/Likely pathogenic | Hyperlipoproteinemia, type I, Hyperlipidemia |
| RS145657341 | Health Risk | Pathogenic/Likely pathogenic | Hyperlipoproteinemia, type I, Cardiovascular phenotype |
| RS2069961546 | Health Risk | Pathogenic/Likely pathogenic | Hyperlipoproteinemia, type I, Hyperlipoproteinemia |
| RS2069982771 | Health Risk | Pathogenic/Likely pathogenic | Hyperlipoproteinemia, type I, Lipase deficiency |
| RS2128838185 | Health Risk | Pathogenic/Likely pathogenic | Hyperlipidemia, familial combined, LPL related |
| RS2128838194 | Health Risk | Pathogenic/Likely pathogenic | Hyperlipoproteinemia, type I, Hyperlipoproteinemia |
| RS2128838564 | Health Risk | Pathogenic/Likely pathogenic | Hyperlipidemia, familial combined, LPL related |
| RS2128839190 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Hyperlipoproteinemia, type I |
| RS2128839600 | Health Risk | Pathogenic/Likely pathogenic | Hyperlipoproteinemia, type I, Hyperlipoproteinemia |
| RS2128839625 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS781614031 | Health Risk | Pathogenic/Likely pathogenic | Hyperlipoproteinemia, type I, Hyperlipidemia |