| Entry |
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| Name |
CYP11B2 deficiency in steroid hormone biosynthesis
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| Definition |
Progesterone -- CYP21A2 >> CYP11B1 >> CYP11B2* // Aldosterone |
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| Expanded |
C00410 -- 1589 >> 1584 >> 1585v2 // C01780 |
|---|
| Class |
nt06019 Steroid hormone biosynthesis
|
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| Type |
Variant
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| Disease |
| H00258 | Aldosterone synthase deficiency |
|
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| Gene |
| 1589 | CYP21A2; cytochrome P450 family 21 subfamily A member 2 |
| 1584 | CYP11B1; cytochrome P450 family 11 subfamily B member 1 |
| 1585 | CYP11B2; cytochrome P450 family 11 subfamily B member 2 |
|
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| Variant |
1585v2 (CYP11B2*) CYP11B2 deficiency
|
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| Metabolite |
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| Reference |
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| Authors |
Cohen T, Theodor R, Rosler A |
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| Title |
Selective hypoaldosteronism in Iranian Jews: An autosomal recessive trait. |
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| Journal |
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| Reference |
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| Authors |
Mitsuuchi Y, Kawamoto T, Miyahara K, Ulick S, Morton DH, Naiki Y, Kuribayashi I, Toda K, Hara T, Orii T, et al. |
|---|
| Title |
Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients. |
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| Journal |
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| LinkDB |
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