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MGP002534

Record overview

MGPD IDMGP002534
Gene ID5805
SpeciesHomo sapiens (Human)
Gene Name6-pyruvoyltetrahydropterin synthase
Gene Symbol PTS
SynonymsPTPS;
Alternate names6-pyruvoyl tetrahydrobiopterin synthase; PTP synthase;
Chromosome11
Map Location11q22.3
EC Number4.2.3.12;
SummaryThe 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]
OrthologsView orthologs and multiple alignments for PTS

Proteins

6-pyruvoyl tetrahydrobiopterin synthase
Refseq ID:NP_000308
Protein GI:4506331
UniProt ID:Q03393
mRNA ID:NM_000317
Length:145
RefSeq Status:
MSTEGGGRRCQAQVSRRISFSASHRLYSKFLSDEENLKLFGKCNNPNGHGHNYKVVVTVHGEIDPATGMVMNLADLKKYMEEAIMQPLDHKNLDMDVPYF
ADVVSTTENVAVYIWDNLQKVLPVGVLYKVKVYETDNNIVVYKGE
 
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