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Sequence of this protein is as follows: DNLPYVQILK TAGVNTTDKE MEVLHLRNVS FEDAGEYTCL AGNSIGLSHH SAWLTVLEAL EERPAVMTSP LYLEIIIYCT GAFLISCMVG SVIVYKMKSG TKKSDF
FGFR1 (also known as FLT2) is a member of the Fibroblast Growth Factor Receptor family that constitute a family of four membrane-spanning tyrosine kinases (FGFR1-4) which serve as high-affinity receptors for 17 growth factors (FGF1-17). The FGF Receptor family plays an important role in multiple biological processes, including mesoderm induction and patterning, cell growth and migration, organ formation and bone growth. FGFR1 is alternatively spliced generating multiple splice variants that are differentially expressed during embryo development and in the adult body. Other defects in FGFR1 are responsible for several diseases which include Pfeiffer syndrome (PS), idiopathic hypogonadotropic hypogonadism (IHH), Kallmann syndrome type 2 (KAL2), osteoglophonic dysplasia (OGD), non-syndromic trigonocephaly, Jackson-Weiss syndrome, Antley-Bixler syndrome. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 2.7.10.1; Basic fibroblast growth factor receptor 1; BFGFR; CD331; CD331 antigen; FGF Receptor; FGFR; fgfr 1; FGFR-1; FGFR1/PLAG1 fusion; Fibroblast growth factor receptor 1; FLT-2; FMS-like tyrosine kinase 2; fms-related tyrosine kinase 2; heparin-binding growth factor receptor; hydroxyaryl-protein kinase; N-sam; Proto-oncogene c-Fgr
基因别名: bFGF-R-1; BFGFR; CD331; CEK; ECCL; FGFBR; FGFR-1; FGFR1; FLG; FLT-2; FLT2; HBGFR; HH2; HRTFDS; KAL2; N-SAM; OGD
UniProt ID: (Human) P11362
Entrez Gene ID: (Human) 2260