Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Nephrin forms the slit diaphragm between podocytes' foot processes. Mutations of the gene cause an autosomal recessive disease, the congenital steroid resistant nephrotic syndrome of the Finnish type.
Nephrin consists of 3 domains. Intracellular and transmembrane domains are only short. The 35nm-long extracellular domain contains a proximal fibronectin type III-like motif and 8 distal IgG-like motifs. Extracellular protein chains from adjacent foot processes are stretched out towards each other, interact in the middle, and form the slits, so important to the filtering function of the glomeruli.
With a tyrosine residue phosphorylated by tyrosine kinases (Src, Fyn), the intracellular domain plays an important role in signal transduction.
| 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 |
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