Literature summary for 1.1.1.153 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.

Search for more literature for 1.1.1.153

Cloned(Commentary)

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

Protein Variants

Protein Variants	Comment	Organism
K251X	naturally occurring mutation in gene SPR, exon 3, causing enzyme deficiency	Homo sapiens
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
P163L	naturally occurring mutation in gene SPR, exon 2, causing enzyme deficiency	Homo sapiens
Q119X	naturally occurring mutation in gene SPR, exon 2, causing enzyme deficiency	Homo sapiens
R150fs	naturally occurring mutation in gene SPR, exon 2, causing enzyme deficiency	Homo sapiens
R150G	naturally occurring mutation in gene SPR, exon 2, causing enzyme deficiency	Homo sapiens

Natural Substrates/ Products (Substrates)

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

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	gene SPR	-

Substrates and Products (Substrate)

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

Synonyms

Synonyms	Comment	Organism
SR	-	Homo sapiens

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)