Article
Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase.
European journal of biochemistry - 1 Sept 1996
Kluge C, Brecevic L, Heizmann C W, Blau N, Thöny B
Abstract excerpt
Autosomal recessive mutations in the 6-pyruvoyltetrahydropterin synthase (PTPS) gene are the most common reason for hyperphenylalaninemia due to tetrahydrobiopterin deficiency. We used the previously isolated PTPS cDNA as a probe and identified the human gene, PTS, located on chromosome 11q22.3-q23.3, and a retropseudogene, PTS-P1, assigned to 9p12-p13 (symbols approved by the human genome nomenclature...
Topics
- Alcohol Oxidoreductases
- Alternative Splicing
- Amino Acid Metabolism, Inborn Errors
- Amino Acid Sequence
- Base Sequence
- Blotting, Southern
- Chromosome Mapping
- Chromosomes, Human, Pair 11
- Chromosomes, Human, Pair 9
- Cloning, Molecular
- Exons
- Humans
- In Situ Hybridization, Fluorescence