Gene: PCBD1

Alternate names for this Gene: DCOH|PCBD|PCD|PHS

Gene Summary: This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 10

Location in Chromosome : 10q22.1

Description of this Gene: pterin-4 alpha-carbinolamine dehydratase 1

Type of Gene: protein-coding

rs104894172 in PCBD1 gene and Hyperphenylalaninemia with primapterinuria PMID 25333069 2014 Disease variants in genomes of 44 centenarians.

PMID 8352282 1993 Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.

PMID 8618906 1995 Characterization of the wild-type form of 4a-carbinolamine dehydratase and two naturally occurring mutants associated with hyperphenylalaninemia.

PMID 9585615 1998 Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH).

PMID 24204001 2014 Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

PMID 9760199 1998 Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia.

PMID 27246466 2017 Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.

rs10999573 in PCBD1 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.