CYP27B1 Chromosome 12
Cytochrome P450 family 27 subfamily B member 1
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What This Gene Does
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Cytochrome P450 family 27
Locus Type
gene with protein product
Location
12q14.1
Ensembl
ENSG00000111012
Associated Conditions (8)
Vitamin D-dependent rickets
type 1
type 1A
CYP27B1-related disorder
Inborn genetic diseases
Multiple sclerosis
susceptibility to
Hepatocellular carcinoma
Key Variants
RS1200364118
Conflicting classifications of pathogenicity
Vitamin D-dependent rickets, type 1, Vitamin D-dependent rickets
Health Risk
RS1300048405
Conflicting classifications of pathogenicity
Vitamin D-dependent rickets, type 1, Vitamin D-dependent rickets
Health Risk
RS1329710441
Conflicting classifications of pathogenicity
Vitamin D-dependent rickets, type 1A, Vitamin D-dependent rickets
Health Risk
RS150334927
Conflicting classifications of pathogenicity
Vitamin D-dependent rickets, type 1, Vitamin D-dependent rickets
Health Risk
RS151335249
Conflicting classifications of pathogenicity
Vitamin D-dependent rickets, type 1, type 1A
Health Risk
RS201629800
Conflicting classifications of pathogenicity
Vitamin D-dependent rickets, type 1, Vitamin D-dependent rickets
Health Risk
RS368126466
Conflicting classifications of pathogenicity
Vitamin D-dependent rickets, type 1, type 1A
Health Risk
RS372771210
Conflicting classifications of pathogenicity
Vitamin D-dependent rickets, type 1, Vitamin D-dependent rickets
Health Risk
RS376212738
Conflicting classifications of pathogenicity
Vitamin D-dependent rickets, type 1, Vitamin D-dependent rickets
Health Risk
RS535463729
Conflicting classifications of pathogenicity
Vitamin D-dependent rickets, type 1A, Inborn genetic diseases
Health Risk
RS568165874
Conflicting classifications of pathogenicity
Vitamin D-dependent rickets, type 1A, Multiple sclerosis
Health Risk
RS751574733
Conflicting classifications of pathogenicity
CYP27B1-related disorder, Vitamin D-dependent rickets, type 1A
Health Risk
All Variants (90)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2140397262 | Health Risk | Pathogenic | Vitamin D-dependent rickets, type 1A, Vitamin D-dependent rickets |
| RS2140397692 | Health Risk | Pathogenic | Vitamin D-dependent rickets, type 1A, Vitamin D-dependent rickets |
| RS2140397731 | Health Risk | Pathogenic | Vitamin D-dependent rickets, type 1A, Vitamin D-dependent rickets |
| RS2140398340 | Health Risk | Pathogenic | — |
| RS2540914599 | Health Risk | Pathogenic | — |
| RS2540915025 | Health Risk | Pathogenic | — |
| RS2540915033 | Health Risk | Pathogenic | — |
| RS2540915557 | Health Risk | Pathogenic | — |
| RS2540915931 | Health Risk | Pathogenic | — |
| RS2540915933 | Health Risk | Pathogenic | — |
| RS2540916075 | Health Risk | Pathogenic | — |
| RS2540916709 | Health Risk | Pathogenic | — |
| RS2540916851 | Health Risk | Pathogenic | — |
| RS2540917035 | Health Risk | Pathogenic | — |
| RS2540917461 | Health Risk | Pathogenic | — |
| RS2540917506 | Health Risk | Pathogenic | — |
| RS2540917603 | Health Risk | Pathogenic | — |
| RS2540919542 | Health Risk | Pathogenic | Vitamin D-dependent rickets, type 1A, Vitamin D-dependent rickets |
| RS28934606 | Health Risk | Pathogenic | Vitamin D-dependent rickets, type 1A, Vitamin D-dependent rickets |
| RS387906258 | Health Risk | Pathogenic | Vitamin D-dependent rickets, type 1A, Vitamin D-dependent rickets |
| RS387906259 | Health Risk | Pathogenic | Vitamin D-dependent rickets, type 1A, Vitamin D-dependent rickets |
| RS387906260 | Health Risk | Pathogenic | Vitamin D-dependent rickets, type 1A, CYP27B1-related disorder |
| RS752330549 | Health Risk | Pathogenic | — |
| RS756300813 | Health Risk | Pathogenic | — |
| RS760233049 | Health Risk | Pathogenic | — |
| RS761780097 | Health Risk | Pathogenic | Vitamin D-dependent rickets, type 1A, Hepatocellular carcinoma |
| RS763437121 | Health Risk | Pathogenic | Vitamin D-dependent rickets, type 1A, Vitamin D-dependent rickets |
| RS765846783 | Health Risk | Pathogenic | — |
| RS771410002 | Health Risk | Pathogenic | — |
| RS778438734 | Health Risk | Pathogenic | — |
| RS780950819 | Health Risk | Pathogenic | Vitamin D-dependent rickets, type 1, Inborn genetic diseases |
| RS1029699819 | Health Risk | Pathogenic/Likely pathogenic | Vitamin D-dependent rickets, type 1A, Vitamin D-dependent rickets |
| RS118204008 | Health Risk | Pathogenic/Likely pathogenic | Vitamin D-dependent rickets, type 1A, Vitamin D-dependent rickets |
| RS118204009 | Health Risk | Pathogenic/Likely pathogenic | Vitamin D-dependent rickets, type 1, type 1A |
| RS376304260 | Health Risk | Pathogenic/Likely pathogenic | Vitamin D-dependent rickets, type 1A, Vitamin D-dependent rickets |
| RS555068245 | Health Risk | Pathogenic/Likely pathogenic | Vitamin D-dependent rickets, type 1, Vitamin D-dependent rickets |
| RS749537609 | Health Risk | Pathogenic/Likely pathogenic | Vitamin D-dependent rickets, type 1A, Vitamin D-dependent rickets |
| RS762550487 | Health Risk | Pathogenic/Likely pathogenic | Vitamin D-dependent rickets, type 1A, Vitamin D-dependent rickets |
| RS767480544 | Health Risk | Pathogenic/Likely pathogenic | Vitamin D-dependent rickets, type 1, type 1A |
| RS772960103 | Health Risk | Pathogenic/Likely pathogenic | Vitamin D-dependent rickets, type 1A, Vitamin D-dependent rickets |