| Primary Identifier | MGI:1338783 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 19286 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables 6-pyruvoyltetrahydropterin synthase activity and identical protein binding activity. Acts upstream of or within tetrahydrobiopterin biosynthetic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Used to study BH4-deficient hyperphenylalaninemia A. Human ortholog(s) of this gene implicated in BH4-deficient hyperphenylalaninemia A and phenylketonuria. Orthologous to human PTS (6-pyruvoyltetrahydropterin synthase). PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced dopamine and serotonin levels in brain, increased levels of neopterin, biopterin, and phenylalanine in liver, and lethality within the first week after birth. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
