| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
CYP17A1 cytochrome P450 family 17 subfamily A member 1 [KO: K00512]
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
nt06019 Steroid hormone biosynthesis |
|---|
| Disease |
| H00216 | Congenital adrenal hyperplasia |
|
|---|
| Reference |
|
|---|
| Authors |
Geller DH, Auchus RJ, Mendonca BB, Miller WL |
|---|
| Title |
The genetic and functional basis of isolated 17,20-lyase deficiency. |
|---|
| Journal |
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|---|
| LinkDB |
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