CYP17A1 Chromosome 10
Cytochrome P450 family 17 subfamily A member 1
Upload your DNA to see your personal genotypes for variants in CYP17A1.
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 protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Cytochrome P450 family 17
Locus Type
gene with protein product
Location
10q24.32
Ensembl
ENSG00000148795
Associated Conditions (17)
Premature ovarian failure
Deficiency of steroid 17-alpha-monooxygenase
Congenital adrenal hyperplasia
17-alpha-hydroxylase/17
20-lyase deficiency
combined complete
CYP17A1-related disorder
Inborn genetic diseases
combined partial
ADRENAL HYPERPLASIA
CONGENITAL
DUE TO 21-HYDROXYLASE DEFICIENCY
Breast cancer
susceptibility to
Differences in sex development
17
isolated
Key Variants
RS1428700861
Conflicting classifications of pathogenicity
Premature ovarian failure, Premature ovarian failure
Health Risk
RS145067399
Conflicting classifications of pathogenicity
Health Risk
RS145117545
Conflicting classifications of pathogenicity
Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
Health Risk
RS17115125
Conflicting classifications of pathogenicity
Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
Health Risk
RS1844127277
Conflicting classifications of pathogenicity
Congenital adrenal hyperplasia, 17-alpha-hydroxylase/17, 20-lyase deficiency
Health Risk
RS188885755
Conflicting classifications of pathogenicity
Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
Health Risk
RS201956379
Conflicting classifications of pathogenicity
Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
Health Risk
RS539435111
Conflicting classifications of pathogenicity
Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
Health Risk
RS554217514
Conflicting classifications of pathogenicity
Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
Health Risk
RS61754263
Conflicting classifications of pathogenicity
Deficiency of steroid 17-alpha-monooxygenase, CYP17A1-related disorder, Deficiency of steroid 17-alpha-monooxygenase
Health Risk
RS755526392
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS765987481
Conflicting classifications of pathogenicity
Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
Health Risk
All Variants (145)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2493242138 | Health Risk | Pathogenic | — |
| RS2493242253 | Health Risk | Pathogenic | Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase |
| RS2493243211 | Health Risk | Pathogenic | — |
| RS2493243250 | Health Risk | Pathogenic | Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase |
| RS2493243312 | Health Risk | Pathogenic | — |
| RS2493245552 | Health Risk | Pathogenic | — |
| RS2493245563 | Health Risk | Pathogenic | — |
| RS2493245759 | Health Risk | Pathogenic | — |
| RS367833709 | Health Risk | Pathogenic | Deficiency of steroid 17-alpha-monooxygenase, Congenital adrenal hyperplasia, Deficiency of steroid 17-alpha-monooxygenase |
| RS61754264 | Health Risk | Pathogenic | — |
| RS61754278 | Health Risk | Pathogenic | 17, 20-lyase deficiency, isolated |
| RS756135168 | Health Risk | Pathogenic | Deficiency of steroid 17-alpha-monooxygenase, 17-alpha-hydroxylase/17, 20-lyase deficiency |
| RS757083287 | Health Risk | Pathogenic | Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase |
| RS760333930 | Health Risk | Pathogenic | — |
| RS760695410 | Health Risk | Pathogenic | Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase |
| RS764723654 | Health Risk | Pathogenic | Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase |
| RS773865367 | Health Risk | Pathogenic | Deficiency of steroid 17-alpha-monooxygenase, Congenital adrenal hyperplasia, Deficiency of steroid 17-alpha-monooxygenase |
| RS777638364 | Health Risk | Pathogenic | Congenital adrenal hyperplasia, Deficiency of steroid 17-alpha-monooxygenase, Congenital adrenal hyperplasia |
| RS786205061 | Health Risk | Pathogenic | 17-alpha-hydroxylase/17, 20-lyase deficiency, combined complete |
| RS786205062 | Health Risk | Pathogenic | 17-alpha-hydroxylase/17, 20-lyase deficiency, combined partial |
| RS868228603 | Health Risk | Pathogenic | Deficiency of steroid 17-alpha-monooxygenase, Congenital adrenal hyperplasia, Deficiency of steroid 17-alpha-monooxygenase |
| RS942376359 | Health Risk | Pathogenic | Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase |
| RS104894138 | Health Risk | Pathogenic/Likely pathogenic | 17-alpha-hydroxylase/17, 20-lyase deficiency, combined complete |
| RS104894139 | Health Risk | Pathogenic/Likely pathogenic | 17, 20-lyase deficiency, isolated |
| RS104894155 | Health Risk | Pathogenic/Likely pathogenic | 17-alpha-hydroxylase/17, 20-lyase deficiency, combined complete |
| RS1173000590 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase |
| RS121434319 | Health Risk | Pathogenic/Likely pathogenic | 17-alpha-hydroxylase/17, 20-lyase deficiency, combined partial |
| RS1250463562 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase |
| RS1423560123 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of steroid 17-alpha-monooxygenase, Congenital adrenal hyperplasia, Deficiency of steroid 17-alpha-monooxygenase |
| RS1458440922 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of steroid 17-alpha-monooxygenase, CYP17A1-related disorder, Deficiency of steroid 17-alpha-monooxygenase |
| RS1844126291 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase |
| RS2493243222 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase |
| RS2493245623 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase |
| RS371825363 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase |
| RS374769118 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase, ADRENAL HYPERPLASIA |
| RS556794126 | Health Risk | Pathogenic/Likely pathogenic | 17-alpha-hydroxylase/17, 20-lyase deficiency, combined complete |
| RS749406474 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase |
| RS752540777 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase |
| RS752811843 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase |
| RS763398879 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase |
| RS766331452 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase |
| RS769188557 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of steroid 17-alpha-monooxygenase, Congenital adrenal hyperplasia, Deficiency of steroid 17-alpha-monooxygenase |
| RS772804570 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of steroid 17-alpha-monooxygenase, Congenital adrenal hyperplasia, Deficiency of steroid 17-alpha-monooxygenase |
| RS774737304 | Health Risk | Pathogenic/Likely pathogenic | Congenital adrenal hyperplasia, Deficiency of steroid 17-alpha-monooxygenase, Congenital adrenal hyperplasia |
| RS879802265 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of steroid 17-alpha-monooxygenase, CYP17A1-related disorder, Deficiency of steroid 17-alpha-monooxygenase |