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GCHFR

Synonyms
GFRP, HsT16933, P35
External resources
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
4,838
Likely benign
22
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on GCHFR gene.

Phenotype class
Patients in 3billion (%)

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