Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The CRB2 gene encodes a protein of the polarity complex. Mutations cause autosomal dominant focal segmental glomerulosclerosis 9 (FSGS9).
| 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. |
Katoh M et al. (2004) Identification and characterization of Crumbs homolog 2 gene at human chromosome 9q33.3. 
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| 2. |
van den Hurk JA et al. (2005) Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.
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| 3. |
Xiao Z et al. (2011) Deficiency in Crumbs homolog 2 (Crb2) affects gastrulation and results in embryonic lethality in mice.
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| 4. |
Ebarasi L et al. (2015) Defects of CRB2 cause steroid-resistant nephrotic syndrome.
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| 5. |
Slavotinek A et al. (2015) CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.
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