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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
