cytochrome P450 family 27 subfamily B member 1
| UniProt | Protein Name |
|---|---|
| O15528 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| vitamin metabolic process | ||
| calcium ion transport | ||
| negative regulation of cell population proliferation | ||
| negative regulation of calcidiol 1-monooxygenase activity | ||
| positive regulation of vitamin D 24-hydroxylase activity |
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytoplasm | ||
| mitochondrion | ||
| mitochondrion | ||
| mitochondrion | ||
| mitochondrion |
| GO Term | Evidence Code | PMID |
|---|---|---|
| calcidiol 1-monooxygenase activity | ||
| calcidiol 1-monooxygenase activity | ||
| calcidiol 1-monooxygenase activity | ||
| iron ion binding | ||
| heme binding |
| InterPro |
|---|
| Cytochrome P450 superfamily |
| Cytochrome P450, E-class, group I |
| Cytochrome P450, conserved site |
| Cytochrome P450 |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0080886 | vitamin D-dependent rickets type 1A | |
| DOID:10609 | rickets | |
| DOID:2043 | hepatitis B | |
| DOID:9744 | type 1 diabetes mellitus | |
| DOID:9970 | obesity |
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000684 | Delayed eruption of teeth |
| HP:0000737 | Irritability |
| HP:0000867 | Secondary hyperparathyroidism |
| HP:0000886 | Deformed rib cage |
| HP:0000893 | Bulging of the costochondral junction |
| HP:0000897 | Rachitic rosary |
| HP:0000920 | Enlargement of the costochondral junction |
| HP:0001252 | Hypotonia |
| HP:0001270 | Motor delay |
| Disease ID | Disease Name |
|---|---|
| ORPHA:289157 |
|
| OMIM:264700 |
|
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: April 6, 2026