Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The KANK2 gene encodes a protein, KN motif and ankyrin repeat domain-containing protein 2, that plays a role in cytoskeletal formation by by regulating actin polymerization. Mutations cause autosomal recessive Congenital nephrotic syndrome type 16.
| 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. |
Gee HY et al. (2015) KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. 
|
| 2. |
Nagase T et al. (2000) Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
|
| 3. |
Zhang Y et al. (2007) SIP, a novel ankyrin repeat containing protein, sequesters steroid receptor coactivators in the cytoplasm.
|
| 4. |
Zhu Y et al. (2008) Kank proteins: a new family of ankyrin-repeat domain-containing proteins.
|
| 5. |
Ramot Y et al. (2014) Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair.
|
 |
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits |
