hph1
Gene Detail

Symbol Name ID

hph1 hyperphenylalaninemia 1 MGI:96214

Synonyms

hph-1

Feature Type

heritable phenotypic marker

Genetic Map

Chromosome 14
Syntenic

Mapping data(6)

Alleles and phenotypes

All alleles(1) : Chemically induced(1)
 

Mutations in this gene result in hyperphenylalaninemia.

 
Human Diseases Modeled Using Mouse hph1 (2)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (4 annotations)

Process	cGMP metabolic process, L-phenylalanine metabolic process, ...
Function	GTP cyclohydrolase activity

Other database links

Entrez Gene

15447

References

(Earliest) J:14082 Bode VC, et al., Hph-1 closely linked to Np-1 on Chromosome 14. Mouse News Lett. 1986;74:97
(Latest) J:195904 Adlam D, et al., Regulation of beta-adrenergic control of heart rate by GTP-cyclohydrolase 1 (GCH1) and tetrahydrobiopterin. Cardiovasc Res. 2012 Mar 15;93(4):694-701
All references(28)

Other accession IDs

MGD-MRK-10916, MGD-MRK-10918