FOLH1
folate hydrolase 1
Summary
This gene encodes a type II transmembrane glycoprotein belonging to the M28 peptidase family. The protein acts as a glutamate carboxypeptidase on different alternative substrates, including the nutrient folate and the neuropeptide N-acetyl-l-aspartyl-l-glutamate and is expressed in a number of tissues such as prostate, central and peripheral nervous system and kidney. A mutation in this gene may be associated with impaired intestinal absorption of dietary folates, resulting in low blood folate levels and consequent hyperhomocysteinemia. Expression of this protein in the brain may be involved in a number of pathological conditions associated with glutamate excitotoxicity. In the prostate the protein is up-regulated in cancerous cells and is used as an effective diagnostic and prognostic indicator of prostate cancer. This gene likely arose from a duplication event of a nearby chromosomal region. Alternative splicing gives rise to multiple transcript variants encoding several different isoforms. [provided by RefSeq, Jul 2010]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs770312515 | 11:49,168,454 | C/T | — | uncertain significance |
| rs1348055003 | 11:49,168,477 | C/T | — | uncertain significance |
| rs771023021 | 11:49,170,201 | G/T | — | uncertain significance |
| rs7946236 | 11:49,172,419 | G/T | — | — |
| rs368725485 | 11:49,172,981 | G/C | — | — |
| rs546821955 | 11:49,175,437 | G/T | — | uncertain significance |
| rs2539176068 | 11:49,175,798 | T/A | — | uncertain significance |
| rs143235150 | 11:49,175,810 | G/T | — | uncertain significance |
| rs2539176590 | 11:49,175,867 | C/A | — | uncertain significance |
| rs1409374155 | 11:49,175,953 | T/C | — | uncertain significance |
| rs1301579531 | 11:49,175,993 | A/T | — | uncertain significance |
| rs1267137372 | 11:49,176,020 | G/C | — | uncertain significance |
| rs55728336 | 11:49,177,808 | T/C | — | — |
| rs758208664 | 11:49,178,285 | C/T | — | uncertain significance |
| rs368939818 | 11:49,178,286 | G/A | — | uncertain significance |
| rs1565137134 | 11:49,178,321 | A/G | — | uncertain significance |
| rs142952497 | 11:49,179,567 | C/T | — | uncertain significance |
| rs781660664 | 11:49,179,578 | T/A | — | uncertain significance |
| rs10839234 | 11:49,185,524 | C/T | intron variant | — |
| rs1442478206 | 11:49,186,259 | C/G | — | uncertain significance |
| rs61886492 | 11:49,186,274 | G/A | missense variant | — |
| rs2299648 | 11:49,188,297 | T/G | — | — |
| rs375484734 | 11:49,190,780 | C/T | — | uncertain significance |
| rs169366 | 11:49,192,092 | G/T | — | — |
| rs202720 | 11:49,192,351 | G/T | — | — |
| rs370887055 | 11:49,192,766 | C/T | — | uncertain significance |
| rs771545439 | 11:49,194,933 | T/C | — | uncertain significance |
| rs7106301 | 11:49,195,756 | T/G | — | — |
| rs146472302 | 11:49,197,492 | G/A | — | uncertain significance |
| rs148966811 | 11:49,203,862 | C/A | intron variant | — |
| rs1405521342 | 11:49,204,723 | A/T | — | uncertain significance |
| rs772709942 | 11:49,204,780 | G/T | — | uncertain significance |
| rs4929895 | 11:49,205,121 | G/A | intron variant | — |
| rs140123322 | 11:49,207,245 | G/A | — | likely benign |
| rs375565491 | 11:49,207,283 | C/T | — | uncertain significance |
| rs182169 | 11:49,207,315 | A/G | — | likely benign |
| rs2539346588 | 11:49,207,332 | C/T | — | uncertain significance |
| rs75655145 | 11:49,208,298 | A/G | — | likely benign |
| rs79155991 | 11:49,208,319 | G/A | — | benign |
| rs138602111 | 11:49,212,687 | C/T | intron variant | — |
| rs138510346 | 11:49,214,380 | G/C | — | benign |
| rs781246950 | 11:49,214,389 | T/C | — | likely benign |
| rs137879711 | 11:49,214,394 | G/A | — | benign |
| rs144409953 | 11:49,214,439 | T/C | — | uncertain significance |
| rs202676 | 11:49,227,620 | A/G | missense variant | benign |
| rs1266635188 | 11:49,227,650 | A/T | — | uncertain significance |
| rs2539480741 | 11:49,229,849 | A/C | — | uncertain significance |
| rs753879892 | 11:49,229,874 | C/T | — | uncertain significance |
| rs2539481976 | 11:49,229,927 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.