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.
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.
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.
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 |
1. |
Rogerson FM et al. (2003) Dissecting mineralocorticoid receptor structure and function. |
2. |
Fuller PJ et al. (2005) Mechanisms of mineralocorticoid action. |
3. |
Orphanet article Orphanet ID 123920 |
4. |
NCBI article NCBI 4306 |
5. |
OMIM.ORG article Omim 600983 |
6. |
Wikipedia article Wikipedia EN (Mineralocorticoid_receptor) |