Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Glutamate receptor-interacting protein 1

The GRIP1 gene encodes a membrane protein that binds and transports various proteins. Mutations cause autosomal recessive Fraser syndrome.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Fraser syndrome
FRAS1
FREM2
GRIP1

References:

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 external link
10.

NCBI article

NCBI 23426 external link
11.

OMIM.ORG article

Omim 604597 external link
12.

Wikipedia article

Wikipedia EN (GRIP1) external link
Update: Aug. 14, 2020
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