Target

Gene symbol :  
Pts
NCBI gene ID :  
19286
Gene full name :  
6-pyruvoyl-tetrahydropterin synthase
Synonym :  
PTPS, 6-pyruvoyltetrahydropterin synthase

Protein function

Protein name :  
PTS
Catalyzes BH₄ synthesis, essential for neurotransmitter production

Expected phenotype

Neurological defects, hypopigmentation

Human disease relevance

Deficiency causes hyperphenylalaninemia and BH₄ deficiency

Model applications

Models for neurotransmitter disorders

Keywords:

BH₄ synthesis, Metabolism, Neurological

Availability & Delivery:

  • Cryo-recovery using in-house SOPF facilities
  • Worldwide delivery by professional breeders

Pts

conditional Knockout mouse

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