GCHFR - GTP cyclohydrolase I feedback regulator Gene

Homo sapiens

Also known as P35; GFRP; HsT16933

Gene ID: 2644 | Gene type: protein coding

About GCHFR

Cytogenetic location: 15q15.1 Genomic coordinates (GRCh38): 15:40,764,068-40,767,708 (from NCBI)

This gene has 6 transcripts (splice variants) and 182 orthologues. Broad expression in liver (RPKM 32.0), small intestine (RPKM 26.3) and 23 other tissues.

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]

GCHFR Products(1)

mRNA	Protein	Name
NM_005258.3	NP_005249.1	GTP cyclohydrolase 1 feedback regulatory protein

GCHFR Protein Structure

GFRP

0
84 a.a.

Protein Preferred Names

Protein Names

GTP cyclohydrolase 1 feedback regulatory protein

GTP cyclohydrolase I feedback regulatory protein

Related Diseases

Diseases

Alias

Hyperphenylalaninemia, Bh4-Deficient, A

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pts Deficiency
HPABH4A	Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency
Ptsd	Bh4-Deficient Hyperphenylalaninemia A
Hyperphenylalaninemia Due To 6-Pyruvoyltetrahydropterin Synthase Deficiency	Tetrahydobioperin-Deficient Hyperphenylalaninemia Due To Pts Deficiency
Hyperphenylalanemia, Bh4-Deficient, A	Hyperphenylalaninemia Due To 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
6-Pyruvoyltetrahydropterin Synthase Deficiency	Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Pts Deficiency
Ptpsd	Hyperphenylalaninemia, Bh4-Deficient, Type A

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05328	GCHFR Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	GCHFR	VGNC	VGNC:29287
Rattus norvegicus	GCHFR	RGD	RGD:621746
Mus musculus	GCHFR	MGD	MGI:2443977
Canis familiaris	GCHFR	VGNC	VGNC:41146
Macaca mulatta	GCHFR	VGNC	VGNC:84341

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