FPGS
folylpolyglutamate synthase
Summary
This gene encodes the folylpolyglutamate synthetase enzyme. This enzyme has a central role in establishing and maintaining both cytosolic and mitochondrial folylpolyglutamate concentrations and, therefore, is essential for folate homeostasis and the survival of proliferating cells. This enzyme catalyzes the ATP-dependent addition of glutamate moieties to folate and folate derivatives. Alternative splicing results in transcript variants encoding different isoforms. [provided by RefSeq, Jan 2014]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1463196897 | 9:130,565,214 | C/T | — | uncertain significance |
| rs1008651151 | 9:130,565,216 | C/T | — | uncertain significance |
| rs760460465 | 9:130,565,222 | C/T | — | uncertain significance |
| rs10760502 | 9:130,565,267 | A/G | missense variant | benign |
| rs1014416938 | 9:130,565,280 | T/G | — | uncertain significance |
| rs757514010 | 9:130,565,291 | C/T | — | uncertain significance |
| rs1450638962 | 9:130,565,292 | G/A | — | uncertain significance |
| rs200706232 | 9:130,566,574 | G/A | — | uncertain significance |
| rs142451905 | 9:130,566,628 | A/C | — | uncertain significance |
| rs2539019252 | 9:130,566,661 | T/C | — | uncertain significance |
| rs777771570 | 9:130,566,934 | C/T | — | uncertain significance |
| rs2539029642 | 9:130,570,580 | A/G | — | uncertain significance |
| rs181035766 | 9:130,571,104 | G/C | — | uncertain significance |
| rs1588558190 | 9:130,571,115 | T/C | — | uncertain significance |
| rs756669526 | 9:130,572,060 | G/C | — | uncertain significance |
| rs982514535 | 9:130,572,085 | G/A | — | uncertain significance |
| rs372248926 | 9:130,572,345 | C/T | — | uncertain significance |
| rs373630875 | 9:130,573,245 | G/A | — | uncertain significance |
| rs35789560 | 9:130,575,515 | C/T | missense variant | benign |
| rs1213991555 | 9:130,575,602 | G/A | — | uncertain significance |
| rs750428981 | 9:130,575,611 | G/A | — | likely benign |
| rs552129194 | 9:130,575,626 | G/A | — | uncertain significance |
| rs747542695 | 9:130,575,746 | G/A | — | uncertain significance |
| rs2539045620 | 9:130,575,779 | G/C | — | uncertain significance |
| rs10106 | 9:130,576,075 | T/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.