6-Pyruvoyl-Tetrahydropterin Synthase

Alternative Names

PTS
PTPS

Length

7,546 bases

No. of Exons

No. of isoforms

Protein Name

6-pyruvoyl tetrahydrobiopterin synthase

Molecular Mass

16386 Da

Amino Acid Count

145

Genomic Location

chr11:112,226,428-112,233,973

Gene Map Locus

11q23.1

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. [From RefSeq]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000317.3:c.155A>G	Saudi Arabia	NC_000011.10:g.112228665A>G	Pathogenic	Likely Pathogenic	Hyperphenylalaninemia, BH4-Deficient, A	NG_008743.1:g.7301A>G; NM_000317.3:c.155A>G; NP_000308.1:p.Asn52Ser	104894275	479
NM_000317.3:c.166GTG[1]	Saudi Arabia	NC_000011.10:g.112230210GTG[1]	Likely Pathogenic, Pathogenic	Likely Pathogenic	Hyperphenylalaninemia, BH4-Deficient, A	NG_008743.1:g.8846GTG[1]; NM_000317.3:c.166GTG[1]; NP_000308.1:p.Val57del	770387277	551630
NM_000317.3:c.200C>T	Egypt; Sudan	NC_000011.10:g.112230639C>T	Pathogenic	Likely Pathogenic	Hyperphenylalaninemia, BH4-Deficient, A	NG_008743.1:g.9275C>T; NM_000317.3:c.200C>T; NP_000308.1:p.Thr67Met	370340361	463151
NM_000317.3:c.238A>G	Saudi Arabia	NC_000011.10:g.112230677A>G	Likely Pathogenic, Pathogenic	Likely Pathogenic	Hyperphenylalaninemia, BH4-Deficient, A	NG_008743.1:g.9313A>G; NM_000317.3:c.238A>G; NP_000308.1:p.Met80Val	1057517810	372484
NM_000317.3:c.2T>G	Saudi Arabia	NC_000011.10:g.112226445T>G	Likely Pathogenic	Likely Pathogenic	Hyperphenylalaninemia, BH4-Deficient, A	NG_008743.1:g.5081T>G; NM_000317.3:c.2T>G; NP_000308.1:p.Met1Arg	1859865221	982126
NM_000317.3:c.342C>G	Saudi Arabia	NC_000011.10:g.112233459C>G	Likely Pathogenic	Likely Pathogenic	Hyperphenylalaninemia, BH4-Deficient, A	NG_008743.1:g.12095C>G; NM_000317.3:c.342C>G; NP_000308.1:p.Ile114Met	17851590	982127
NM_000317.3:c.367C>T	Oman	NC_000011.10:g.112233484C>T	Pathogenic	Likely Pathogenic	Hyperphenylalaninemia, BH4-Deficient, A	NG_008743.1:g.12120C>T; NM_000317.3:c.367C>T; NP_000308.1:p.Pro123Ser	141163668	1067696
NM_000317.3:c.400G>A	Oman	NC_000011.10:g.112233517G>A	Likely Pathogenic, Pathogenic, Uncertain Significance	Likely Pathogenic	Hyperphenylalaninemia, BH4-Deficient, A	NG_008743.1:g.12153G>A; NM_000317.3:c.400G>A; NP_000308.1:p.Glu134Lys	779681799	556230

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External Links

https://medlineplus.gov/genetics/gene/pts/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=PCBD1

Contributors

Pratibha Nair: 21.09.2023

Edit History

Pratibha Nair: 21.09.2023

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