Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The KANK1 gene encodes a protein, KN motif and ankyrin repeat domain-containing protein 1, that is involved in cytoskeletal formation by regulatiing actin polymerization. It seems to be involved in various pathophysiological conditions such as autosomal recessive congenital spastic tetraplegia, renal carcinoma, and platlet dysfunktion. A pseudogene is located on chromosme 20.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Nagase T et al. (1996) Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. 
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| 2. |
Sarkar S et al. (2002) A novel ankyrin repeat-containing gene (Kank) located at 9p24 is a growth suppressor of renal cell carcinoma.
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| 3. |
Lerer I et al. (2005) Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy.
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| 4. |
Kakinuma N et al. (2009) Kank proteins: structure, functions and diseases.
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| 5. |
Gee HY et al. (2015) KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.
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