Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Kongenitales nephrotisches Syndrom vom Typ 15
MAGI2

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.

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2.

Wood JD et al. (1998) Atrophin-1, the DRPLA gene product, interacts with two families of WW domain-containing proteins.

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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.

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4.

Ide N et al. (1999) Interaction of S-SCAM with neural plakophilin-related Armadillo-repeat protein/delta-catenin.

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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.

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6.

Shoji H et al. (2000) Identification and characterization of a PDZ protein that interacts with activin type II receptors.

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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.

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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.

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9.

Deng F et al. (2006) Stargazin and other transmembrane AMPA receptor regulating proteins interact with synaptic scaffolding protein MAGI-2 in brain.

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10.

Marshall CR et al. (2008) Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

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11.

Bauß K et al. (2014) Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.

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12.

Ihara K et al. (2014) MAGI-2 is critical for the formation and maintenance of the glomerular filtration barrier in mouse kidney.

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13.

Balbas MD et al. (2014) MAGI-2 scaffold protein is critical for kidney barrier function.

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14.

Bierzynska A et al. (2017) Mutations Cause Congenital Nephrotic Syndrome.

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Update: 3. November 2022
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