Linked Life Data

8188266

Source:http://linkedlifedata.com/resource/pubmed/id/8188266

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1994-6-20
pubmed:abstractText
Tetrahydrobiopterin (BH4) is the redox cofactor for the aromatic amino acid hydroxylases such as phenylalanine hydroxylase. At least five enzymes are known to be involved in BH4 biosynthesis and regeneration. A deficiency in several of the BH4 metabolic enzymes causes variant types of hyperphenylalaninemias in man. Recently, we cloned and expressed the human cDNAs for two of the BH4 enzymes, the 6-pyruvoyl-tetrahydropterin synthase and the pterin-4 alpha-carbinolamine dehydratase (gene symbols PTS and PCD/DCOH, respectively). In this report, we localized the two genes on the human chromosomes by in situ hybridization. The PTS gene was mapped to the chromosomal region 11q22.3-q23.3, and the PCD/DCOH gene was mapped to the 10q22 band of the genome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0888-7543
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
19
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
365-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Chromosomal location of two human genes encoding tetrahydrobiopterin-metabolizing enzymes: 6-pyruvoyl-tetrahydropterin synthase maps to 11q22.3-q23.3, and pterin-4 alpha-carbinolamine dehydratase maps to 10q22.
pubmed:affiliation
Department of Pediatrics, University of Zürich, Switzerland.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't