Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Mineralocorticoid receptor

In the distal nephron the mineralocorticoid receptor receptor binds aldosterone and activates several transcription factors that lead to activation of the epithelial sodium channel. The disease caused by mutations is autosomal dominant pseudohypoaldosteronism 1.

Gene Structure

The gene stretches over 365kb on chromosome 4 (4q31.1). It consists of 9 exons, 8 of them transcribed. Exon 1 exists in two different splice variants; both regulated by an other promoter. Because translation starts in exon 2, however, translation products are the same.

Expression

In colon, kidney, and salivary glands, this receptor controls the sodium channel ENaC. By this pathway aldosterone controls sodium uptake into the cell and consequently into the body and ensures sodium and water balance as well as blood pressure regulation. In the kidney, aldosterone sensitive epithelial cells are located in the distal nephron.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Liddle syndrome
NEDD4
NEDD4L
NR3C2
OXSR1
SCNN1B
SCNN1G
STK39
Pseudohypoaldosteronism type1
NR3C2
SCNN1A
SCNN1B
SCNN1G
Pregnancy exacerbated hypertension
NR3C2
Glucocorticoid triggered hypertension
NR3C1

References:

1.

Rogerson FM et al. (2003) Dissecting mineralocorticoid receptor structure and function.

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2.

Fuller PJ et al. (2005) Mechanisms of mineralocorticoid action.

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Update: Sept. 26, 2018