MAGI2-Gen
Das MAGI2-Gen kodiert ein Protein, welches an der Signaltransduktion von Atrophieprozessen beteiligt ist. Mutationen sind für das autosomal rezessive nephrotische Syndrom vom Typ 15 verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Ishikawa K et al. (1998) Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
|
2. |
Wood JD et al. (1998) Atrophin-1, the DRPLA gene product, interacts with two families of WW domain-containing proteins.
|
3. |
Hirao K et al. (1998) A novel multiple PDZ domain-containing molecule interacting with N-methyl-D-aspartate receptors and neuronal cell adhesion proteins.
|
4. |
Ide N et al. (1999) Interaction of S-SCAM with neural plakophilin-related Armadillo-repeat protein/delta-catenin.
|
5. |
Hirao K et al. (2000) Three isoforms of synaptic scaffolding molecule and their characterization. Multimerization between the isoforms and their interaction with N-methyl-D-aspartate receptors and SAP90/PSD-95-associated protein.
|
6. |
Shoji H et al. (2000) Identification and characterization of a PDZ protein that interacts with activin type II receptors.
|
7. |
Valiente M et al. (2005) Binding of PTEN to specific PDZ domains contributes to PTEN protein stability and phosphorylation by microtubule-associated serine/threonine kinases.
|
8. |
Lehtonen S et al. (2005) Cell junction-associated proteins IQGAP1, MAGI-2, CASK, spectrins, and alpha-actinin are components of the nephrin multiprotein complex.
|
9. |
Deng F et al. (2006) Stargazin and other transmembrane AMPA receptor regulating proteins interact with synaptic scaffolding protein MAGI-2 in brain.
|
10. |
Marshall CR et al. (2008) Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
|
11. |
Bauß K et al. (2014) Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.
|
12. |
Ihara K et al. (2014) MAGI-2 is critical for the formation and maintenance of the glomerular filtration barrier in mouse kidney.
|
13. |
Balbas MD et al. (2014) MAGI-2 scaffold protein is critical for kidney barrier function.
|
14. |
Bierzynska A et al. (2017) Mutations Cause Congenital Nephrotic Syndrome.
|
Update: 3. November 2022