Steroid 11-beta-hydroxylase
Inactivating mutations of this key enzyme in steroid hormone production cause hypertensive form of adrenal hyperplasia. A rare rearangement at this locus is found to be responsible for glucocorticoid remediable hypertension.
Genetests:
Related Diseases:
References:
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Lifton RP et al. (1992) A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension.
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2. |
Mulatero P et al. (2004) Genetics of primary aldosteronism.
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3. |
White PC et al. (1991) A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin.
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Orphanet article
Orphanet ID 120949
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5. |
NCBI article
NCBI 1584
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OMIM.ORG article
Omim 610613
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7. |
Wikipedia article
Wikipedia EN (Steroid_11β-hydroxylase)
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Update: Aug. 14, 2020