Angiopoietin 1 (ANG-1) ELISA Kit

This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist 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 acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]

FGFR3: a receptor tyrosine kinase of the highly-conserved FGFR family that binds fibroblast growth factor (FGF). Mutations are associated with thanatophoric dysplasia (TD), craniosynostosis Adelaide type, many craniosynostotic syndromes and bone malformations. Three splice-variant isoforms have been described. Activating point mutations cause dwarfism, including achondroplasia, hypochrondroplasia and thanatophoric dysplasia, and facial and other morphogenetic disorders, including Crouzon syndrome, craniosynostosis Adelaide type, San Diego skeletal displasia and Muenke syndrome. Translocations t(4;14) involving the IgH region are common in multiple myeloma and frequently involve FGFR3. Activated FGFR3 found in 30% of bladder cancers and several cervical cancers, but not in other tumors. Two mutations found in colorectal cancer.

Protein type: EC 2.7.10.1; FGFR family; Kinase, protein; Membrane protein, integral; Protein kinase, TK; Protein kinase, tyrosine (receptor); TK group

Chromosomal Location of Human Ortholog: 4p16.3

Cellular Component: cell surface; endoplasmic reticulum; extracellular region; focal adhesion; Golgi apparatus; integral component of plasma membrane; nucleus; plasma membrane; transport vesicle

Molecular Function: 1-phosphatidylinositol-3-kinase activity; ATP binding; fibroblast growth factor binding; fibroblast growth factor-activated receptor activity; identical protein binding; phosphatidylinositol-4,5-bisphosphate 3-kinase activity; protein binding; protein tyrosine kinase activity; Ras guanyl-nucleotide exchange factor activity

Biological Process: bone maturation; bone mineralization; cell-cell signaling; chondrocyte differentiation; chondrocyte proliferation; endochondral bone growth; endochondral ossification; fibroblast growth factor receptor apoptotic signaling pathway; fibroblast growth factor receptor signaling pathway; MAPK cascade; negative regulation of developmental growth; peptidyl-tyrosine phosphorylation; phosphatidylinositol phosphorylation; positive regulation of cell proliferation; positive regulation of ERK1 and ERK2 cascade; positive regulation of MAPK cascade; positive regulation of phosphatidylinositol 3-kinase activity; positive regulation of phospholipase activity; positive regulation of protein kinase B signaling; positive regulation of tyrosine phosphorylation of STAT protein; protein autophosphorylation; skeletal system development

Disease: Achondroplasia; Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans; Bladder Cancer; Camptodactyly, Tall Stature, And Hearing Loss Syndrome; Cervical Cancer; Colorectal Cancer; Crouzon Syndrome With Acanthosis Nigricans; Hypochondroplasia; Lacrimoauriculodentodigital Syndrome; Muenke Syndrome; Nevus, Epidermal; Testicular Germ Cell Tumor; Thanatophoric Dysplasia, Type I; Thanatophoric Dysplasia, Type Ii