Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Nephrin

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.

Protein Structure

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.

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

Related Diseases:

Congenital nephrotic syndrome type 01 (Finnish type)
NPHS1
Glomerulosclerosis
Familial partial lipodystrophy type 2
LMNA
Focal, segmental glomerulosclerosis (FSGS)
ALG13
ARHGAP24
CLU
Hereditary FSGS type 1
ACTN4
Hereditary FSGS type 2
TRPC6
Hereditary FSGS type 3
CD2AP
Hereditary FSGS type 4
APOL1
Hereditary FSGS type 5
INF2
Hereditary FSGS type 6
MYO1E
Hereditary FSGS type 7
PAX2
ITGA9
LAMA5
NXF5
Frasier syndrome
WT1
Glycogen storage disease 1A
G6PC
Norum disease
LCAT

References:

1.

Koziell A et al. (2002) Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.

external link
2.

Philippe A et al. (2008) Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.

external link
3.

Santín S et al. (2009) Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.

external link
4.

Orphanet article

Orphanet ID 123889 external link
5.

NCBI article

NCBI 4868 external link
6.

OMIM.ORG article

Omim 602716 external link
7.

Wikipedia article

Wikipedia EN (Nephrin) external link
Update: Aug. 14, 2020
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