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FGFR1
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FGFR2
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FGFR2
The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acidsequence is highly conserved between members and throughout evolution. FGFR family members differ from oneanother in their ligand affinities and tissue distribution. A full-length representative protein consists of anextracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanningsegment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts withfibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesisand differentiation. This particular family member is a high-affinity receptor for acidic, basic and/orkeratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzonsyndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutisgyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively splicedtranscript variants encoding different isoforms have been noted for this gene. (provided by RefSeq, Jan 2009)The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acidsequence is highly conserved between members and throughout evolution
FGFR family members differ from oneanother in their ligand affinities and tissue distribution. A full-length representative protein consists of anextracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanningsegment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts withfibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesisand differentiation. This particular family member is a high-affinity receptor for acidic, basic and/orkeratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzonsyndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutisgyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively splicedtranscript variants encoding different isoforms have been noted for this gene. (provided by RefSeq, Jan 2009)
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