CYP1B1

cytochrome P450 family 1 subfamily B member 1

2 disorders 2 causative 2p22.2 gene with protein product

HGNC:2597 Monarch NCBI Gene 1545 ENSG00000138061 UniProt Q16678 OMIM 601771

Previous symbols: GLC3A. Aliases: CP1B.

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
Congenital Glaucoma	causative germline loss of function	mechanism: CYP1B1 Deficiency in the Developing Anterior Segment subtype: GLC3A scoped to subtype: GLC3A
Juvenile Open Angle Glaucoma	causative germline	mechanism: Loss of CYP1B1 Monooxygenase Activity subtype: CYP1B1 JOAG

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
CYP1B1-related glaucoma with or without anterior segment dysgenesis MONDO:0800472	AR	Definitive 2023-01-19	no dismech entry

Mechanism modules · computed from kb/

anterior_segment_dysgenesis via Congenital Glaucoma

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