This is the amplicon context sequence in accordance with the minimum information for the publication of real-time quantitative PCR experiements (MIQE) guidelines. For more details, please refer to the following publication, "Primer Sequence Disclosure: A Clarification of the MIQE Guidelines."
ddPCR™ probe assay designed for gene expression analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.
Info: HEX; Same primer pair and probe as used in qPCR assay qHsaCIP0033242; Intron-spanning
The protein encoded by this gene is a member of the fibroblast growth factor receptor family where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region composed of three immunoglobulin-like domains a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors setting in motion a cascade of downstream signals ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic basic and/or keratinocyte growth factor depending on the isoform. Mutations in this gene are associated with Crouzon syndrome Pfeiffer syndrome Craniosynostosis Apert syndrome Jackson-Weiss syndrome Beare-Stevenson cutis gyrata syndrome Saethre-Chotzen syndrome and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq Jan 2009]