Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The AVIL gene encodes a protein, advillin, that interacts with actin. Mutations cause autosomal recessive Congenital nephrotic syndrome type 21.
| 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. |
Kim J et al. (2010) Functional genomic screen for modulators of ciliogenesis and cilium length. 
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| 2. |
Marks PW et al. (1998) Advillin (p92): a new member of the gelsolin/villin family of actin regulatory proteins.
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| 3. |
Tümer Z et al. (2002) Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13-14 (IBD2).
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| 4. |
Hasegawa H et al. (2007) Analyzing somatosensory axon projections with the sensory neuron-specific Advillin gene.
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| 5. |
Rao J et al. (2017) Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome.
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