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Functional Study

SDS-PAGE

Entrez GeneID

Protein Accession#

Gene Name

FGFR1

Gene Alias

BFGFR, CD331, CEK, FGFBR, FLG, FLJ99988, FLT2, HBGFR, KAL2, N-SAM

Gene Description

fibroblast growth factor receptor 1

Omim ID

Gene Ontology

Gene Summary

The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) 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 binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq

Other Designations

FMS-like tyrosine kinase 2|OTTHUMP00000190874|OTTHUMP00000190878|OTTHUMP00000190879|OTTHUMP00000190881|basic fibroblast growth factor receptor 1|fms-related tyrosine kinase 2|fms-related tyrosine kinase-2|heparin-binding growth factor receptor|hydroxyaryl