Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The GRIP1 gene encodes a membrane protein that binds and transports various proteins. Mutations cause autosomal recessive Fraser syndrome.
| 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 |
| 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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| 12. |
Wikipedia article Wikipedia EN (GRIP1)
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