Cortisol 11-beta-ketoreductase
The enzyme encoded by this gene metabolises cortisol to cortisone in the kidney and thereby prevents excessive mineralocorticoid receptor stimulation by cortisol. Deficiency results in clinical symptoms similar to hyperaldosteronism, which is remediable by dexamethasone suppressing cortisol secretion.
Genetests:
Related Diseases:
References:
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Palermo M et al. (2004) Apparent mineralocorticoid excess syndrome: an overview.
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2. |
Kamide K et al. (2006) Genetic variations of HSD11B2 in hypertensive patients and in the general population, six rare missense/frameshift mutations.
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3. |
Iwai N et al. (2004) Genetic analysis of 22 candidate genes for hypertension in the Japanese population.
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4. |
Alikhani-Koopaei R et al. (2004) Epigenetic regulation of 11 beta-hydroxysteroid dehydrogenase type 2 expression.
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5. |
Carvajal CA et al. (2005) Biochemical and genetic characterization of 11 beta-hydroxysteroid dehydrogenase type 2 in low-renin essential hypertensives.
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6. |
Williams TA et al. (2005) Role of HSD11B2 polymorphisms in essential hypertension and the diuretic response to thiazides.
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7. |
Ge RS et al. (2005) Gene expression in rat leydig cells during development from the progenitor to adult stage: a cluster analysis.
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8. |
Bassett MH et al. (2005) Expression profiles for steroidogenic enzymes in adrenocortical disease.
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9. |
NCBI article
NCBI 3291
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10. |
OMIM.ORG article
Omim 614232
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11. |
Orphanet article
Orphanet ID 122502
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12. |
Wikipedia article
Wikipedia EN (Corticosteroid_11-beta-dehydrogenase_isozyme_2)
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Update: Aug. 14, 2020