GCHFR
GTP cyclohydrolase I feedback regulator
Summary
GTP cyclohydrolase I feedback regulatory protein binds to and mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase I. The regulatory protein, GCHFR, consists of a homodimer. It is postulated that GCHFR may play a role in regulating phenylalanine metabolism in the liver and in the production of biogenic amine neurotransmitters and nitric oxide. [provided by RefSeq, Jul 2008]
Known Variants4 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7164342 | 15:41,055,367 | G/T | regulatory region variant | — |
| rs7163862 | 15:41,055,368 | A/G | — | — |
| rs1273954697 | 15:41,059,477 | G/A | — | uncertain significance |
| rs202144307 | 15:41,059,530 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.