BIOMDB : Genomic Structures and Mutations

Mutations in the GCH1, PTS, PCBD, and QDPR genes are known to cause autosomal recessive forms of hyperphenylalaninemia (HPA), those in the SPR gene cause neurotransmitters deficiency without hyperphenylalaninemia, and those in the GCH1 gene may also cause autosomal dominant Dopa-responsive dystonia (DRD)

To view a gene structure - click on link on left