Linked Life Data

48887BiochemicalReaction1848

Source:http://www.reactome.org/biopax/48887BiochemicalReaction1848

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
biopax3:comment
Authored: Rothfels, K, 2012-02-09, Edited: Rothfels, K, 2012-05-16, FGFR3 P350R is associated with the development of Muenke syndrome, a milder craniosynostotic condition than Apert Syndrome (Bellus, 1996; Reardon, 1997). This mutation, which falls in the highly conserved Ser-Pro dipeptide in the IgII-IgIII linker, has been shown to increase the affinity of the receptor for its natural ligands, particularly for FGF9 (Ibrahimi, 2004a), without expanding the ligand-binding range of the receptor. This difference, compared to the paralogous FGFR2 S252W and P253R mutations, which bind an expanded range of ligands, is thought to account for the milder phenotype of Muenke Syndrome (Yu, 2000; Ibrahimi, 2004a, b)., Reviewed: Ezzat, S, 2012-05-15
biopax3:xref
biopax3:dataSource
biopax3:displayName
FGFR3c P250R mutant binds to ligand with enhanced affinity
biopax3:left
biopax3:participantStoichio...
biopax3:right