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The FGFR1 gene is located on human chromosome 8 at position p11.23 (i.e. 8p11.23), has 24 exons, and codes for a Precursor mRNA that is alternatively spliced at exons 8A or 8B thereby generating two mRNAs coding for two FGFR1 isoforms, FGFR1-IIIb (also termed FGFR1b) and FGFR1-IIIc (also termed FGFR1c), respectively.
11116 75296 Ensembl ENSG00000213066 ENSMUSG00000069135 UniProt O95684 Q66JX5 RefSeq (mRNA) NM_194429 NM_001278690 NM_007045 NM_001197046 NM_201230 RefSeq (protein) NP_001265619 NP_008976 NP_919410 NP_001183975 NP_957682 Location (UCSC) Chr 6: 167 – 167.09 Mb Chr 17: 8.38 – 8.42 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse FGFR1 oncogene partner is a protein that in humans is ...
So far, five distinct membrane FGFR have been identified in vertebrates and all of them belong to the tyrosine kinase superfamily (FGFR1 to FGFR4). FGFR1 (see also Fibroblast growth factor receptor 1) (= CD331) FGFR2 (see also Fibroblast growth factor receptor 2) (= CD332) FGFR3 (see also Fibroblast growth factor receptor 3) (= CD333)
Pfeiffer syndrome is caused by mutations in the fibroblast growth factor receptors FGFR1 and FGFR2. The syndrome is grouped into three types: type 1 (classic Pfeiffer syndrome) is milder and caused by mutations in either gene; types 2 and 3 are more severe, often leading to death in infancy, caused by mutations in FGFR2. [2]
The mammalian fibroblast growth factor receptor family has 4 members, FGFR1, FGFR2, FGFR3, and FGFR4. The FGFRs consist of three extracellular immunoglobulin-type domains (D1-D3), a single-span trans-membrane domain and an intracellular split tyrosine kinase domain. FGFs interact with the D2 and D3 domains, with the D3 interactions primarily ...
FGFR1OP2, when fused with the fibroblast growth factor receptor 1 (FGFR1), is shown to cause myeloproliferative syndrome. [1] The protein encoded by the FGFR1 gene belongs to the fibroblast growth factor receptor family. [2]
Fibroblast growth factor 1 (FGF-1) also known as acidic fibroblast growth factor (aFGF), is a growth factor and signaling protein encoded by the FGF1 gene. [5] [6] It is synthesized as a 155 amino acid polypeptide, whose mature form is a non-glycosylated 17-18 kDa protein.
Fibroblast growth factor receptor-like 1 is a protein that in humans is encoded by the FGFRL1 gene. [5]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.