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Gene : PTS Homo sapiens

Name  ? 6-pyruvoyltetrahydropterin synthase Cytological Location  11q23.1
Brief Description  6-pyruvoyltetrahydropterin synthase
description  The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008]
  • synonyms:
  • uc001pnj.5,
  • OTTHUMG00000167167,
  • U63382,
  • NM_000317,
  • PTS,
  • HGNC:9689,
  • PTPS,
  • PTPS
  • identifiers:
  • 5805,
  • ENSG00000150787,
  • PTS

Genome feature

Region: gene ? Length: 7609  
Location: 11:112226365-112233973 Cyto location: 11q23.1


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

453 SN Ps

5 Cross References

20 Data Sets

4 Homologues

0 Located Features

90 Rna Seq Results