PCBD1 (Gene)

Synonyms:DCOH, ENTREZ:5092, HGNC:8646, MIM:126090, NM_000281, NM_001289797, NM_001323004, NP_000272, NP_001276726, NP_001309933, PCBD, PCBD1, PCD, PHS, pterin-4 alpha-carbinolamine dehydratase 1
Omim:OMIM:126090
Id:ENSG00000166228
Hgnc:HGNC:8646
Entrez:5092
Description:pterin-4 alpha-carbinolamine dehydratase 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]

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Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View PCBD1's neighborhood in the knowledge graph.

Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with PCBD1.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using PCBD1.

Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for PCBD1.

Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with PCBD1.

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