Description
Key facts
Cell type:HEK-293,
Species or organism:Human,
Tissue:Kidney,
Form:LiquidSee storage information,
Knockout validation:Next Generation Sequencing,Western blot,
Mutation description:Knockout achieved by CRISPR/Cas9 X = 1 bp insertion Frameshift = 99.28%
Product details:
We will provide viable cells that proliferate on revival.
This product is subject to limited use licenses from The Broad Institute, ERS Genomics Limited and Sigma-Aldrich Co. LLC, and is developed with patented technology. For full details of the licenses and patents please refer to our
limited use license
patent pages
Properties and Storage Information:
Gene name-FGFR3, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Next Generation Sequencing, Western blot, Shipped at conditions-Dry Ice, Appropriate short-term storage conditions--196°C, Appropriate long-term storage conditions--196°C
Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
FGFR3 or fibroblast growth factor receptor 3 is a tyrosine kinase receptor with a molecular mass of approximately 95 kDa. This receptor also known as CD333 primarily interacts with fibroblast growth factors. It resides on the cell surface and is predominately expressed in bone cartilage and the brain. FGFR3 plays a major role in cell growth regulation and differentiation affecting how cells respond to external signals.
Biological function summary
FGFR3 participates in important processes such as chondrogenesis and osteogenesis which are essential for bone growth and development. The receptor operates within a complex system involving interactions with ligand-induced dimerization and autophosphorylation. This phosphorylation event activates the receptor's intrinsic kinase activity further triggering downstream signaling pathways for cellular responses.
Pathways
FGFR3 is involved with the MAPK/ERK and PI3K/AKT pathways which play significant roles in cell proliferation differentiation and survival. FGFR3 links closely with FGF ligands and similar receptor types such as FGFR1 and FGFR2 within these pathways. Differences in pathway activation can lead to diverse biological responses illustrating its pivotal role in maintaining cellular homeostasis.
FGFR3 mutations have significant links to skeletal disorders most notably achondroplasia characterized by short limbs and abnormal bone growth. FGFR3 also associates with bladder cancer where overactivity of the receptor leads to increased cell proliferation and survival. Mutations in FGFR3 often correlate with these conditions impacting signaling pathways and interacting with proteins such as PTPN11 highlighting its critical role in pathogenesis.
