About: Fibroblast Growth Factor Receptor 3     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Fibroblast Growth Factor Receptor 3
equivalentClass
OMIM_Number
  • 134934
Semantic_Type
  • Amino Acid, Peptide, or Protein
  • Receptor
Preferred_Name
  • Fibroblast Growth Factor Receptor 3
UMLS_CUI
  • C0117718
Legacy_Concept_Name
  • Fibroblast_Growth_Factor_Receptor-3
FULL_SYN
  • EC 2.7.1.112SYNCI
  • Fibroblast Growth Factor Receptor 3PTNCI
  • Hydroxyaryl-Protein KinaseSYNCI
  • FGFR3SYNCI
  • Tyrosine Kinase JTK4SYNCI
Swiss_Prot
  • P22607
DEFINITION
  • Expressed in brain, kidney, testis, and widely in fetal tissues by human FGFR3 Gene (FGFR Family), 3 alternative isoforms of highly conserved type I membrane protein Fibroblast Growth Factor Receptor 3, consisting of an acidic- and basic-FGF binding extracellular region (containing 3 Ig C2-type domains), a transmembrane segment, and a cytoplasmic tyrosine kinase domain, activate downstream signal cascades involved in mitogenesis and differentiation, as well as bone development and maintenance. FGFR3 defects cause achondroplasia, crouzon syndrome, thanatophoric dysplasia, coronal synostosis, hypochondroplasia, bladder and cervix cancers. (NCI)NCI
code
  • C26129
sameAs
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