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Human Disease and Mouse Model Detail
Human Disease Hyperphenylalaninemia, Bh4-Deficient, B; HPABH4B
OMIM ID: 233910
Synonyms Hyperphenylalaninemia, BH4-Deficient; Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Gtp Cyclohydrolase I Deficiency
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Gene is associated with the disease in this species
      Mouse Homologs Human Homologs Mouse Models Mouse : Human
Homology Class
     Gch1 GCH1*   1:1 Homology

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
08/12/2014
MGI 5.19
The Jackson Laboratory