CYP27B1
Cytochrome P450 Family 27 Subfamily B Member 1
Gene Information Card
| Symbol | CYP27B1 |
|---|---|
| Full Name | Cytochrome P450 Family 27 Subfamily B Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q14.1 |
| NCBI Gene ID | 1594 ncbi.nlm.nih.gov/gene/1594 |
| Ensembl ID | ENSG00000111012 |
| UniProt ID | O15528 |
| OMIM ID | 609506 |
| HGNC ID | 2606 |
| Aliases | CP2B, CYP1A, CYP27B, P450c1, VDD1, VDDR1A |
Description
CYP27B1 encodes the mitochondrial cytochrome P450 enzyme 25-hydroxyvitamin D-1-alpha hydroxylase (1α-hydroxylase), which catalyzes the conversion of 25-hydroxyvitamin D3 (calcidiol) to the active hormone 1,25-dihydroxyvitamin D3 (calcitriol). This enzyme is primarily expressed in the kidney and is critical for calcium and phosphate homeostasis. Loss-of-function mutations cause vitamin D-dependent rickets type 1A (VDDR1A), characterized by hypocalcemia, hypophosphatemia, and bone deformities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Vitamin D-dependent rickets type 1A (VDDR1A) | Loss-of-function mutations in CYP27B1 impair 1α-hydroxylase activity, reducing calcitriol synthesis and leading to impaired intestinal calcium absorption and bone mineralization. | ClinVar, OMIM |
| Multiple sclerosis (susceptibility) | Polymorphisms in CYP27B1 are associated with altered vitamin D metabolism, potentially influencing immune regulation and MS risk. | NCBI Gene, PubMed |
| Chronic kidney disease-mineral and bone disorder (CKD-MBD) | Reduced renal CYP27B1 expression in CKD leads to calcitriol deficiency, contributing to secondary hyperparathyroidism and bone disease. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 22.5 | High |
| Placenta | 3.1 | Low |
| Skin | 1.8 | Low |
| Bone marrow | 1.2 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression in transfected cells |
| HK-2 (kidney proximal tubule) | 12.8 | Endogenous expression |
| Caco-2 (intestinal) | 2.1 | Low expression |
| HepG2 (liver) | 0.4 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.195+2T>C | Splice donor | Rare | Loss of function; causes VDDR1A |
| p.Arg389His | Missense | Rare | Reduced enzymatic activity; associated with VDDR1A |
| p.Leu343Phe | Missense | Rare | Impaired 1α-hydroxylase activity; VDDR1A |
| p.Gly125Glu | Missense | Rare | Loss of function; VDDR1A |
Mutation functional classification
Loss of Function (LOF)
Most CYP27B1 mutations are loss-of-function, leading to reduced or absent 1α-hydroxylase activity and calcitriol deficiency, causing VDDR1A.
Gain of Function (GOF)
No gain-of-function mutations have been reported in CYP27B1.
Dominant Negative (DN)
No dominant-negative effects have been described for CYP27B1 mutations.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Vitamin D metabolism and regulation (Reactome: R-HSA-196791)
• Metabolism of vitamins and cofactors (Reactome: R-HSA-196849)
• Vitamin D receptor pathway (WikiPathways: WP2877)
Protein Summary
CYP27B1 is a mitochondrial cytochrome P450 enzyme (1α-hydroxylase) of 508 amino acids, containing a heme-binding domain and a ferredoxin-binding region. It is primarily expressed in renal proximal tubules, where it converts 25-hydroxyvitamin D3 to the active hormone 1,25-dihydroxyvitamin D3. The enzyme is regulated by parathyroid hormone, FGF23, and calcium levels. Defects in CYP27B1 cause vitamin D-dependent rickets type 1A.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP27B1 Knockout HEK293 Cell Line | EDJ-KQ3766 | Human | 1594 | Details Get a Quote |
| CYP27B1 Knockout A-549 Cell Line | EDJ-KQ24488 | Human | 1594 | Details Get a Quote |
| CYP27B1 Knockout HCT 116 Cell Line | EDJ-KQ25851 | Human | 1594 | Details Get a Quote |
| CYP27B1 Knockout HeLa Cell Line | EDJ-KQ25852 | Human | 1594 | Details Get a Quote |
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