Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Hyperaldosteronism type 1
CYP11B1
CYP11B2
Hypoaldosteronism
CYP11B2

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 [^]
3.

OMIM.ORG article

Omim 124080 [^]
4.

Orphanet article

Orphanet ID 120955 [^]
5.

Wikipedia article

Wikipedia EN (Aldosterone_synthase) [^]
Update: April 29, 2019