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.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
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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2. |
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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3. |
Vogel MJ et al. (2012) Mutations in GRIP1 cause Fraser syndrome.
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4. |
Brückner K et al. (1999) EphrinB ligands recruit GRIP family PDZ adaptor proteins into raft membrane microdomains.
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5. |
Bladt F et al. (2002) Epidermolysis bullosa and embryonic lethality in mice lacking the multi-PDZ domain protein GRIP1.
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6. |
Setou M et al. (2002) Glutamate-receptor-interacting protein GRIP1 directly steers kinesin to dendrites.
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7. |
Contractor A et al. (2002) Trans-synaptic Eph receptor-ephrin signaling in hippocampal mossy fiber LTP.
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8. |
Liu SJ et al. (2005) Subunit interaction with PICK and GRIP controls Ca2+ permeability of AMPARs at cerebellar synapses.
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9. |
Orphanet article
Orphanet ID 303028
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10. |
NCBI article
NCBI 23426
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11. |
OMIM.ORG article
Omim 604597
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Update: 14. August 2020