PLPP1
phospholipid phosphatase 1
Summary
The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in synthesis of glycerolipids and in phospholipase D-mediated signal transduction. This enzyme is an integral membrane glycoprotein that plays a role in the hydrolysis and uptake of lipids from extracellular space. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs761003943 | 5:54,721,053 | G/A | — | uncertain significance |
| rs144798547 | 5:54,721,062 | T/C | — | uncertain significance |
| rs200684737 | 5:54,721,063 | T/A | — | uncertain significance |
| rs755866580 | 5:54,721,108 | C/G | — | uncertain significance |
| rs139142643 | 5:54,721,792 | C/T | — | uncertain significance |
| rs55884452 | 5:54,760,269 | G/A | intron variant | — |
| rs1752338577 | 5:54,763,720 | A/C | — | uncertain significance |
| rs189226834 | 5:54,763,734 | T/C | — | uncertain significance |
| rs1752340459 | 5:54,763,799 | A/T | — | uncertain significance |
| rs1222905855 | 5:54,763,908 | A/G | — | uncertain significance |
| rs75486563 | 5:54,772,208 | C/A | intron variant | — |
| rs760383847 | 5:54,786,838 | C/T | — | uncertain significance |
| rs753639621 | 5:54,786,849 | T/A | — | uncertain significance |
| rs140514019 | 5:54,786,907 | T/C | — | uncertain significance |
| rs192327991 | 5:54,790,874 | G/A | intron variant | — |
| rs10057211 | 5:54,796,049 | A/C | intron variant | — |
| rs1343787114 | 5:54,830,404 | C/G | — | uncertain significance |
| rs1241738554 | 5:54,830,415 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.