Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Glutamaterezeptor-interagierendes Protein 1

Das GRIP1-Gen kodiert ein Membranprotein, welches mit einer Reihe von Proteinen bindet und deren transmembranösen Transport bewerkstelligt. Mutationen führen zu autosomal rezessivem Fraser-Syndrom.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Fraser-Syndrom
FRAS1
FREM2
GRIP1

Referenzen:

1.

Brückner K et. al. (1999) EphrinB ligands recruit GRIP family PDZ adaptor proteins into raft membrane microdomains.

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2.

Bladt F et. al. (2002) Epidermolysis bullosa and embryonic lethality in mice lacking the multi-PDZ domain protein GRIP1.

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3.

Setou M et. al. (2002) Glutamate-receptor-interacting protein GRIP1 directly steers kinesin to dendrites.

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4.

Contractor A et. al. (2002) Trans-synaptic Eph receptor-ephrin signaling in hippocampal mossy fiber LTP.

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5.

Takamiya K et. al. (2004) A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1.

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6.

Liu SJ et. al. (2005) Subunit interaction with PICK and GRIP controls Ca2+ permeability of AMPARs at cerebellar synapses.

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7.

Kiyozumi D et. al. (2006) Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects.

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8.

Vogel MJ et. al. (2012) Mutations in GRIP1 cause Fraser syndrome.

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