PCBD1

pterin-4 alpha-carbinolamine dehydratase 1

2 disorders 2 causative 10q22.1 gene with protein product

HGNC:8646 Monarch NCBI Gene 5092 ENSG00000166228 UniProt P61457 OMIM 126090

Previous symbols: DCOH, PCBD. Aliases: PCD.

Normal function · from ai-gene-review (P61457, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Disorder of Catecholamine Synthesis	causative germline	mechanism: BH4 Cofactor Deficiency
Tetrahydrobiopterin Deficiency	causative	mechanism: BH4 Biosynthesis and Regeneration Gene Defect subtype: PCD Deficiency scoped to subtype: PCD Deficiency

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
pterin-4 alpha-carbinolamine dehydratase 1 deficiency MONDO:0009908	AR	Definitive 2021-07-27	Tetrahydrobiopterin Deficiency causative

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.