Aldosterone synthase
This gene encodes aldosteron synthase, an essential enzyme in aldosteron production. Loss of function mutations result in congenital hypoaldosteronism, gain of function mutations lead to hypertension and suppressed renin.
Genetests:
Related Diseases:
References:
1. |
Okamoto M et al. (2005) Molecular identity and gene expression of aldosterone synthase cytochrome P450.
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2. |
NCBI article
NCBI 1585
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3. |
OMIM.ORG article
Omim 124080
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4. |
Orphanet article
Orphanet ID 120955
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5. |
Wikipedia article
Wikipedia EN (Aldosterone_synthase)
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Update: Aug. 14, 2020