Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
KIRREL1, also called NEPH1, is a member of the nephrin-like protein family, whose cytoplasmic tail interacts with the C terminus of podocin. Mutations cause congenital nephrotic syndrome type 23.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Donoviel DB et al. (2001) Proteinuria and perinatal lethality in mice lacking NEPH1, a novel protein with homology to NEPHRIN. 
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| 2. |
Sellin L et al. (2003) NEPH1 defines a novel family of podocin interacting proteins.
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| 3. |
Liu G et al. (2003) Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability.
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| 4. |
Neumann-Haefelin E et al. (2010) A model organism approach: defining the role of Neph proteins as regulators of neuron and kidney morphogenesis.
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| 5. |
Solanki AK et al. (2019) Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.
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