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CYP11B2
124080


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Aldosterone synthase

Scientific background:

Summary: 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.

Methodology:

 

clinical
test
Method Genomic sequencing of the entire coding region
Turn-around time 25 working days
Effort little
Specimen DNA
Quality assessment Internal quality control only
  All known and new missense, nonsense and splice mutations can be detected.

 

clinical
test
Method Carrier testing
Turn-around time 5 working days
Effort little
Specimen DNA
Quality assessment Internal quality control only
  The test is only specific about the mutation already known in this kindred.

Systematic link table: 

Glucocorticoid-remediable aldosteronism
CYP11B1
CYP11B2

Literature: 

Okamoto M et al. (2005) Molecular identity and gene expression of aldosterone synthase cytochrome P450.