Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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

Related Diseases:

Fraser syndrome
FRAS1
FREM2
GRIP1

References:

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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Update: Sept. 26, 2018