CYP27A1 Chromosome 2
Cytochrome P450 family 27 subfamily A member 1
Upload your DNA to see your personal genotypes for variants in CYP27A1.
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. This mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Cytochrome P450 family 27
Locus Type
gene with protein product
Location
2q35
Ensembl
ENSG00000135929
Associated Conditions (10)
Cholestanol storage disease
CYP27A1-related disorder
Cardiovascular phenotype
Intellectual disability
Ovarian cancer
Sarcoma
Regression of motor development with severe dystonia and corresponding basal ganglia lesions
See cases
Senior-Loken syndrome 1
Uveal melanoma
Key Variants
RS1177463640
Conflicting classifications of pathogenicity
Cholestanol storage disease, CYP27A1-related disorder, Cholestanol storage disease
Health Risk
RS1178297854
Conflicting classifications of pathogenicity
Cholestanol storage disease, Cardiovascular phenotype, Cholestanol storage disease
Health Risk
RS1187804477
Conflicting classifications of pathogenicity
Cholestanol storage disease, Cardiovascular phenotype, Cholestanol storage disease
Health Risk
RS1238340088
Conflicting classifications of pathogenicity
Cholestanol storage disease, Cardiovascular phenotype, Cholestanol storage disease
Health Risk
RS1306558952
Conflicting classifications of pathogenicity
Cholestanol storage disease, Cholestanol storage disease
Health Risk
RS1336081746
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cholestanol storage disease, Cardiovascular phenotype
Health Risk
RS138596741
Conflicting classifications of pathogenicity
Cholestanol storage disease, Cardiovascular phenotype, Cholestanol storage disease
Health Risk
RS139279260
Conflicting classifications of pathogenicity
Cholestanol storage disease, Cardiovascular phenotype, CYP27A1-related disorder
Health Risk
RS139415581
Conflicting classifications of pathogenicity
Cholestanol storage disease, CYP27A1-related disorder, Cardiovascular phenotype
Health Risk
RS1406298698
Conflicting classifications of pathogenicity
Cholestanol storage disease, Cholestanol storage disease
Health Risk
RS141519183
Conflicting classifications of pathogenicity
Cholestanol storage disease, Cardiovascular phenotype, Cholestanol storage disease
Health Risk
RS142623022
Conflicting classifications of pathogenicity
Cholestanol storage disease, Cardiovascular phenotype, CYP27A1-related disorder
Health Risk
All Variants (246)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS760323157 | Health Risk | Pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS761663976 | Health Risk | Pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS771819245 | Health Risk | Pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS777935791 | Health Risk | Pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS886041342 | Health Risk | Pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS886556800 | Health Risk | Pathogenic | Cholestanol storage disease, CYP27A1-related disorder, Cholestanol storage disease |
| RS1057519469 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS111570247 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cardiovascular phenotype, Cholestanol storage disease |
| RS1178393503 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS121908096 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Intellectual disability, CYP27A1-related disorder |
| RS121908098 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, CYP27A1-related disorder, Cholestanol storage disease |
| RS121908099 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Intellectual disability, Cholestanol storage disease |
| RS121908102 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, CYP27A1-related disorder, Cardiovascular phenotype |
| RS1319938730 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS1339553782 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS1398584213 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS1425208118 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS1449962580 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS1553616457 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease, Cholestanol storage disease |
| RS1559384522 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS1559391480 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cardiovascular phenotype, Cholestanol storage disease |
| RS1559392634 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS1559392904 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS1575206357 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, CYP27A1-related disorder, Cholestanol storage disease |
| RS1575206688 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS1943397479 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS1943689766 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS1943690848 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS1943736070 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS1943741125 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS1943763473 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS201346271 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, CYP27A1-related disorder, Cholestanol storage disease |
| RS2105981099 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS2470226358 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS2470229179 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS2470230328 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS397515353 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease, Cholestanol storage disease |
| RS533885672 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS560108684 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, CYP27A1-related disorder, Cholestanol storage disease |
| RS573951598 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cardiovascular phenotype, Cholestanol storage disease |
| RS587778778 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cardiovascular phenotype, Cholestanol storage disease |
| RS587778794 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS587778796 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, CYP27A1-related disorder, Cholestanol storage disease |
| RS72551317 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS758739930 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, Cholestanol storage disease |
| RS765512351 | Health Risk | Pathogenic/Likely pathogenic | Cholestanol storage disease, CYP27A1-related disorder, Cholestanol storage disease |