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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 Gene15447
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:202783 Welsh C, et al., Tetrahydrobiopterin deficiency induces gastroparesis in newborn mice. Am J Physiol Gastrointest Liver Physiol. 2013 Jul 1;305(1):G47-57
All references(29)
Other
accession IDs
MGD-MRK-10916, MGD-MRK-10918

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory