Nephrozystin 5
Das Gen NPHP5 kodiert eine Nephrozystin welches für die ordnungsgemäße Ziliarfunktion im Nierenepithel wichtig ist. Gendefekte führen zu Funktionsverlusten. Das resultirenden Krankheitsbild wird Nephronophthise 5 oder Senior-Loken-Syndrom 5 bezeichnet.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Nomura N et al. (1994) Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1.
|
2. |
Otto EA et al. (2005) Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
|
3. |
Stone EM et al. (2011) Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.
|
4. |
Luo X et al. (2005) Cloning and characterization of a p53 and DNA damage down-regulated gene PIQ that codes for a novel calmodulin-binding IQ motif protein and is up-regulated in gastrointestinal cancers.
|
5. |
Schäfer T et al. (2008) Genetic and physical interaction between the NPHP5 and NPHP6 gene products.
|
6. |
OMIM.ORG article
Omim 609237
|
7. |
Orphanet article
Orphanet ID 122670
|
8. |
NCBI article
NCBI 9657
|
Update: 14. August 2020