| Entrez Gene ID | 4023 |
|---|---|
| Official Gene Symbol | LPL (GeneCards) |
| Full name | lipoprotein lipase |
| Location | 8p21.3 |
| Other ids | Vega : OTTHUMG00000036645 MIM : 609708 HGNC : HGNC:6677 Ensembl : ENSG00000175445 |
| Other names | LIPD, HDLCQ11 |
| Summary | 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] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 11930 | 4023 | LPL | 8 | 19856291 | 19856291 | Asymptomatic | HiSeq X Ten |
| 12280 | 4023 | LPL | 8 | 19934279 | 19934279 | Asymptomatic | HiSeq X Ten |
| 12621 | 4023 | LPL | 8 | 19815031 | 19815031 | Cockayne syndrome | HiSeq X Ten |
| 23339 | 4023 | LPL | 8 | 19940548 | 19940548 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |