AGPAT1
1-acylglycerol-3-phosphate O-acyltransferase 1
Summary
This gene encodes an enzyme that converts lysophosphatidic acid (LPA) into phosphatidic acid (PA). LPA and PA are two phospholipids involved in signal transduction and in lipid biosynthesis in cells. This enzyme localizes to the endoplasmic reticulum. This gene is located in the class III region of the human major histocompatibility complex. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Known Variants6 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1061808 | 6:32,136,547 | T/G | downstream gene variant | — |
| rs748794275 | 6:32,137,096 | C/T | — | uncertain significance |
| rs987013114 | 6:32,137,117 | C/T | — | uncertain significance |
| rs541875204 | 6:32,138,688 | A/G | — | — |
| rs200978599 | 6:32,139,087 | C/T | — | uncertain significance |
| rs16869385 | 6:32,143,991 | G/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.