The PTS gene homepage

General information
Gene symbol PTS
Gene name 6-pyruvoyltetrahydropterin synthase
Chromosome 11
Chromosomal band q23.1
Imprinted Unknown
Genomic reference NG_008743.1
Transcript reference NM_000317.2
Associated with diseases HPABH-4A
Citation reference(s) -
Curators (1) MyHVP
Total number of public variants reported 3
Unique public DNA variants reported 3
Individuals with public variants 1
Hidden variants 0
Download all this gene's data Download all data
Date created March 25, 2021
Date last updated August 01, 2021
Version PTS:210801

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 9689
Entrez Gene 5805
PubMed articles PTS
OMIM - Gene 612719
OMIM - Diseases HPABH-4A (hyperphenylalaninemia, BH4-deficient, type A (HPABH-4A, 6-pyruvoyl-tetrahydropterin synthase deficiency))
GeneCards PTS
GeneTests PTS

Active transcripts




NCBI ID     

NCBI Protein ID     

00000426 11 6-pyruvoyltetrahydropterin synthase NM_000317.2 NP_000308.1 3

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