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Literature summary extracted from

  • Thoeny, B.; Blau, N.
    Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase (2006), Hum. Mutat., 27, 870-878.
    View publication on PubMed

Application

EC Number Application Comment Organism
1.5.1.34 medicine enzyme deficiency leads to progressive mental and physical retardation despite dietary phenylalanine restriction. Overview on genomic structure and location of natural mutations in the QDPR gene coding for enzyme Homo sapiens

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.1.1.153 gene SPR, chromosomal location at 2p13, genomic structure, DNA and amino acid sequence determination of wild-type and mutant enzymes Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.1.1.153 K251X naturally occurring mutation in gene SPR, exon 3, causing enzyme deficiency Homo sapiens
1.1.1.153 additional information identification of different mutant alleles or molecular lesions of enzymes, involved in the tetrahydrobiopterin metabolism, leading to disorders, SPR deficiency causes an autosomal recessive monoamine neurotransmitter deficiency, mutations occur in exons 2 and 3, in intron 2, and in the 5'-UTR, overview Homo sapiens
1.1.1.153 P163L naturally occurring mutation in gene SPR, exon 2, causing enzyme deficiency Homo sapiens
1.1.1.153 Q119X naturally occurring mutation in gene SPR, exon 2, causing enzyme deficiency Homo sapiens
1.1.1.153 R150fs naturally occurring mutation in gene SPR, exon 2, causing enzyme deficiency Homo sapiens
1.1.1.153 R150G naturally occurring mutation in gene SPR, exon 2, causing enzyme deficiency Homo sapiens
4.2.1.96 C82R mutant enzyme expressed as a soluble form has 40% of normal activity Homo sapiens
4.2.1.96 E97K a biopsy of duodenal mucosa from a patient with homozygous E97K mutation has 17% of normal activity Homo sapiens
4.2.1.96 additional information nine different mutations detected in patients with PCD deficiency. All these mutations are associated with a benign form of tetrahydrobiopterin deficiency, characterized by persistent urinary excretion of 7-substituted biopterin (primapterin or primapterinuria) and transient hyperphenylalaninemia. Most of the mutations recognized in patients with PCD deficiency are either a single amino acid change or a stop codon Homo sapiens
4.2.3.12 additional information compound heterozygous or homozygous mutations are spread over the entire genes for PTS with 44 mutant alleles Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
1.1.1.153 additional information Homo sapiens the enzyme is involved in the tetrahydrobiopterin biosynthesis ?
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
1.1.1.153 Homo sapiens
-
 gene SPR
-
1.5.1.34 Homo sapiens
-
-
-
4.2.1.96 Homo sapiens
-
-
-
4.2.3.12 Homo sapiens
-
-
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.1.1.153 additional information the enzyme is involved in the tetrahydrobiopterin biosynthesis Homo sapiens ?
-
 ?

Synonyms

EC Number Synonyms Comment Organism
1.1.1.153 SR
-
 Homo sapiens
4.2.1.96 carbinolamine-4a-dehydratase
-
 Homo sapiens
4.2.3.12 6-pyruvoyl-tetrahydropterin synthase
-
 Homo sapiens
4.2.3.12 PTS
-
 Homo sapiens