Analysis of FGFR1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1881-LGZ)

Introduction

Official Full Name: fibroblast growth factor receptor 1<br />Also known as: CEK; FLG; HH2; OGD; ECCL; FLT2; KAL2; BFGFR; CD331; FGFBR; FLT-2; HBGFR; N-SAM; FGFR-1; HRTFDS; bFGF-R-1<br />The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, and its amino acid sequence is highly conserved among members and throughout evolution. FGFR family members differ from each other in ligand affinity and tissue distribution. The full-length representative protein includes an extracellular region consisting of three immunoglobulin-like domains, a hydrophobic membrane-spanning segment, and a cytoplasmic tyrosine kinase domain. The extracellular portion of this protein interacts with fibroblast growth factors, initiating a series of downstream signals that ultimately affect mitosis and differentiation. Members of this particular family bind acidic and basic fibroblast growth factors and are involved in limb induction. Mutations in this gene are associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteohemoglobin dysplasia, and autosomal dominant Kallmann syndrome. Chromosomal aberrations involving this gene have been associated with stem cell myeloproliferative disorders and stem cell leukemia-lymphoma syndromes. Alternative splicing variants encoding different protein isoforms have been described; however, not all variants have been fully described.