KANK2-Gen
Das KANK2-Gen kodiert ein Protein, welches die Actin-Bindung im Cytoskelett reguliert. Mutationen sind für das autosomal rezessive nephrotische Syndrom vom Typ 16 verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Gee HY et al. (2015) KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.
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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.
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3. |
Zhang Y et al. (2007) SIP, a novel ankyrin repeat containing protein, sequesters steroid receptor coactivators in the cytoplasm.
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4. |
Zhu Y et al. (2008) Kank proteins: a new family of ankyrin-repeat domain-containing proteins.
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5. |
Ramot Y et al. (2014) Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair.
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Update: 3. November 2022