Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about CYP27B1: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.
CYP27B1 gene encodes 25-hydroxyvitamin D3 1-alpha-hydroxylase, a mitochondrial cytochrome P450 enzyme essential for converting vitamin D metabolites to their active form, with critical roles in calcium homeostasis, neuroprotection, and immune modulation in neurodegenerative diseases.
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| Gene Symbol | CYP27B1 |
| Full Name | Vitamin D 1-alpha Hydroxylase (CYP27B1) |
| Chromosome | 12q14.1 |
| Protein Type | Enzyme |
| Function | is a mitochondrial cytochrome P450 enzyme with distinct structural features |
| Primary Expression | a tissue-specific manner: |
| Molecular Weight | 56 kDa |
| Amino Acids | 508 aa |
| Exons | 9 |
| UniProt ID | [Q9H3J8](https://www.uniprot.org/uniprot/Q9H3J8) |
| Ensembl ID | ENSG00000128604 |
| OMIM | 171080 |
| GeneCards | CYP27B1 |
| Human Protein Atlas | CYP27B1 |
| Exon 1 | Encodes the 5' UTR and N-terminal mitochondrial targeting sequence |
| Associated Diseases | neurodegeneration |
| KG Connections | 8 knowledge graph edges |
| Databases | GeneCardsNCBI GeneHPASTRING |
Knowledge base pages for this entity
graph TD
CYP27B1["CYP27B1"]
N_1_25_Dihydroxyvitamin_D3["1,25-Dihydroxyvitamin D3"]
Substantia_Nigra["Substantia Nigra"]
neurodegeneration["neurodegeneration"]
CYP27B1 -->|"catalyzes"| N_1_25_Dihydroxyvitamin_D3
CYP27B1 -->|"expressed in"| Substantia_Nigra
CYP27B1 -->|"implicated in"| neurodegeneration
style CYP27B1 fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px,color:#fff
style N_1_25_Dihydroxyvitamin_D3 fill:#1a1a2e,stroke:#888,stroke-width:2px,color:#fff
style Substantia_Nigra fill:#1a1a2e,stroke:#888,stroke-width:2px,color:#fff
style neurodegeneration fill:#1a1a2e,stroke:#888,stroke-width:2px,color:#fff| Source | Relation | Type | Str |
|---|---|---|---|
| BECN1 | targets | gene | 0.60 |
Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
|---|---|---|---|
| No targeting hypotheses | |||
Scientific analyses that reference this entity
No analyses mention this entity
Experimental studies targeting or related to this entity
| Experiment | Type | Disease | Score | Feasibility | Model | Status | Est. Cost |
|---|---|---|---|---|---|---|---|
| No experiments found | |||||||
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||
Multi-agent debates referencing this entity
No debates reference this entity
Hypotheses and analyses mentioning CYP27B1 in their description or question text
No additional research found