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FREM2

Tuesday 20 March 2007

FREM2 gene encodes a protein of 3,098 amino acids. The protein contains an N-terminal signal peptide, 12 chondroitin sulfate proteoglycan repeats, 5 calcium-binding loops similar to those of sodium-calcium exchangers, a transmembrane domain, and a C-terminal PDZ motif. They also have sites for N-glycosylation. FREM2 shares significant similarity with FRAS1 (MIM.607830).

Pathology

- germline mutationsin Fraser syndrome (MIM.219000)

References

- Jadeja, S.; Smyth, I.; Pitera, J. E.; Taylor, M. S.; van Haelst, M.; Bentley, E.; McGregor, L.; Hopkins, J.; Chalepakis, G.; Philip, N.; Perez Aytes, A.; Watt, F. M.; Darling, S. M.; Jackson, I.; Woolf, A. S.; Scambler, P. J. :
Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nature Genet 37: 520-525, 2005. PubMed ID : #15838507#