CYP7B1 Chromosome 8
Cytochrome P450 family 7 subfamily B member 1
Upload your DNA to see your personal genotypes for variants in CYP7B1.
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 endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016]
Gene Info
Gene Group
Cytochrome P450 family 7
Locus Type
gene with protein product
Location
8q12.3
Ensembl
ENSG00000172817
Associated Conditions (8)
Spastic paraplegia
Hereditary spastic paraplegia 5A
Hereditary spastic paraplegia
Congenital bile acid synthesis defect 3
Inborn genetic diseases
CYP7B1-related disorder
Spastic ataxia
Lung cancer
Key Variants
RS1045912447
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS114797034
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS118000312
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 5A, Hereditary spastic paraplegia, Hereditary spastic paraplegia 5A
Health Risk
RS1265090791
Conflicting classifications of pathogenicity
Spastic paraplegia, Congenital bile acid synthesis defect 3, Hereditary spastic paraplegia 5A
Health Risk
RS1376071051
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 5A, Spastic paraplegia, CYP7B1-related disorder
Health Risk
RS139816673
Conflicting classifications of pathogenicity
Spastic paraplegia, Congenital bile acid synthesis defect 3, Hereditary spastic paraplegia 5A
Health Risk
RS1412737307
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS145152682
Conflicting classifications of pathogenicity
Spastic paraplegia, Congenital bile acid synthesis defect 3, Hereditary spastic paraplegia 5A
Health Risk
RS145292008
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 5A, Spastic paraplegia, Hereditary spastic paraplegia 5A
Health Risk
RS145521868
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 5A, Spastic paraplegia, Inborn genetic diseases
Health Risk
RS1467815062
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia 5A, Spastic paraplegia
Health Risk
RS1471365409
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
All Variants (113)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116171274 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 5A, Spastic paraplegia, Hereditary spastic paraplegia |
| RS121908610 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 5A, Hereditary spastic paraplegia, Spastic paraplegia |
| RS121908611 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 5A, Spastic paraplegia, Hereditary spastic paraplegia |
| RS1245262159 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 5A, Congenital bile acid synthesis defect 3, Spastic paraplegia |
| RS1298132281 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Hereditary spastic paraplegia 5A, Hereditary spastic paraplegia |
| RS1385678413 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 5A, Spastic paraplegia, Lung cancer |
| RS2129629942 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS367916692 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 5A, Spastic paraplegia, Hereditary spastic paraplegia 5A |
| RS747514385 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 5A, Hereditary spastic paraplegia, Spastic paraplegia |
| RS747514399 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Hereditary spastic paraplegia 5A, Congenital bile acid synthesis defect 3 |
| RS751713917 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 5A, Spastic paraplegia, Congenital bile acid synthesis defect 3 |
| RS769676029 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 5A, Spastic paraplegia, Hereditary spastic paraplegia 5A |
| RS866340497 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Hereditary spastic paraplegia, Hereditary spastic paraplegia 5A |