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FRAS1

MIM.607830 4q21

Wednesday 15 December 2004

The FRAS1 gene encodes a putative extracellular matrix (ECM) protein.

Pathology

- FRAS1 is mutated in Fraser syndrome (MIM.219000).

See also

- FREM2

References

- Slavotinek, A.; Li, C.; Sherr, E. H.; Chudley, A. E. : Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. Am. J. Med. Genet. 140A: 1909-1914, 2006.

- Vrontou, S.; Petrou, P.; Meyer, B. I.; Galanopoulos, V. K.; Imai, K.; Yanagi, M.; Chowdhury, K.; Scambler, P. J.; Chalepakis, G. :
Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice. Nature Genet. 34: 209-214, 2003. PubMed ID : 12766770

- McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, Kerr B, Wainwright B, Woolf AS, Winter RM, Scambler PJ. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nat Genet. 2003 Jun;34(2):203-8. PMID: 12766769