PCBD1
Sign in to saveAlso known as DCOH, PCBD, PCD, PHS, pterin-4 alpha-carbinolamine dehydratase 1
Pterin-4-alpha-carbinolamine dehydratase is an enzyme that in humans is encoded by the PCBD1 gene.
Gene data
PCBD1- Name
- pterin-4 alpha-carbinolamine dehydratase 1
- Type
- protein-coding
- Position
- 70,882,280–70,888,616 (−)
- Aliases
- DCOH, PCBD, PCD, PHS
- Ensembl
- ENSG00000166228
- RefSeq RNA
- NM_000281.4, NM_001001939.1, NM_001289797.2, NM_001323004.2
- RefSeq protein
- NP_000272.1, NP_001276726.1, NP_001309933.1
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. [provided by RefSeq, Jan 2014].
Gene Ontology
Biological process
Molecular function
Cellular component
Pathways
via MyGene.info
Gene · Ensembl
pterin-4 alpha-carbinolamine dehydratase 1
- Symbol
- PCBD1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 10:70,882,280-70,888,616
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~1 min read
Encyclopedic overview
5 sectionsContents
- Function
- Clinical significance
- Interactions
- References
- Further reading
Pterin-4-alpha-carbinolamine dehydratase is an enzyme that in humans is encoded by the PCBD1 gene.
== Function ==
Excerpted from Wikipedia’s “PCBD1” article, available under the CC BY-SA 4.0 licence.