6-pyruvoyl tetrahydrobiopterin synthase [Homo sapiens]

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BH4-deficient hyperphenylalaninemia in Russia. [PLoS One. 2021]
BH4-deficient hyperphenylalaninemia in Russia.
Gundorova P, Kuznetcova IA, Baydakova GV, Stepanova AA, Itkis YS, Kakaulina VS, Alferova IP, Lyazina LV, Andreeva LP, Kanivets I, et al. PLoS One. 2021; 16(4):e0249608. Epub 2021 Apr 6.
Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth. [Mol Genet Metab. 2020]
Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.
Manzoni F, Salvatici E, Burlina A, Andrews A, Pasquali M, Longo N. Mol Genet Metab. 2020 Dec; 131(4):380-389. Epub 2020 Nov 18.
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients. [Mol Genet Metab. 2020]
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.
Manti F, Nardecchia F, Banderali G, Burlina A, Carducci C, Carducci C, Donati MA, Gueraldi D, Paci S, Pochiero F, et al. Mol Genet Metab. 2020 Sep-Oct; 131(1-2):155-162. Epub 2020 Jun 24.

RefSeq genomic sequence
See the genomic reference sequence for the PTS gene (NG_008743.1).
RefSeq mRNA
See reference mRNA sequence for the PTS gene (NM_000317.3).
RefSeq protein isoforms
See 5 reference sequence protein isoforms for the PTS gene.

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SNP
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NP_000308 [Domain Mapping of Disease Mut...]
NP_000308
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
Find Quality Antibodies [GeneTex Inc]
Find Quality Antibodies
GeneTex Inc
Evolutionary Trace of Functional Site [Evolutionary Trace of Functio...]
Evolutionary Trace of Functional Site

Homo sapiens sphingomyelin synthase 2 (SGMS2), transcript variant 3, mRNA
Homo sapiens sphingomyelin synthase 2 (SGMS2), transcript variant 3, mRNA
gi|1773094871|ref|NM_001136258.2|

Nucleotide
MAG: hypothetical protein UE699_01070 [Bacilli bacterium]
MAG: hypothetical protein UE699_01070 [Bacilli bacterium]
gb|MEE0014264.1||gnl|WGS:JAXJIT|UE6 070

Protein
Mycobacteriaceae beta subunit of RNA polymerase (rpoB) gene, partial cds.
Mycobacteriaceae beta subunit of RNA polymerase (rpoB) gene, partial cds.
PopSet: 699263024

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