CYP27B1 notes

Deep research (falcon) attempted 2026-10-10 and failed (timeout); manual literature review from cached GOA papers.

• Cloning, activity and VDDR1 null alleles PMID:9415400.
• Recombinant human enzyme, mitochondrial, adrenodoxin-dependent, activated by cardiolipin; also acts on 25(OH)D2 and CYP24A1 intermediates PMID:22862690; 24R,25(OH)2D3 is a good substrate PMID:10518789.
• PDDR missense mutants inactive PMID:10518789.
• Extrarenal autocrine roles: keratinocytes PMID:12496369, mammary epithelium PMID:16549446, bone PMID:17023519; induction by LPS in dendritic cells PMID:12855575, IFN-gamma in monocytes PMID:9282826.
• Location: Reactome "mitochondrial outer membrane" modified to inner membrane (type I mitochondrial P450, adrenodoxin partner, cardiolipin activation).
• Vitamin D catabolic process (IBA/IEA) marked over-annotated: activation, not catabolism.
• dismech Vitamin_D-Dependent_Rickets_Type_1A binds GO:0004498 calcidiol 1-monooxygenase activity — consistent. ClinGen Definitive (AR) added there.