GAB1 ist ein Gen, das durch das Symbol GAB1 kodiert wird. Im Allgemeinen auch bezeichnet als: GRB2-associated-binding protein 1; GRB2-associated binder 1; Growth factor receptor bound protein 2-associated protein 1. GAB1 hat eine Masse von 76.62kDa, eine Aminosäurelänge von 694, und ist an Deafness, autosomal recessive, 26 beteiligt.
Wir bieten 17 antikörper gegen GAB1, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC, ELISA and ICC/IF mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Adapter protein that plays a role in intracellular signaling cascades triggered by activated receptor-type kinases. Plays a role in FGFR1 signaling. Probably involved in signaling by the epidermal growth factor receptor (EGFR) and the insulin receptor (INSR). Involved in the MET/HGF-signaling pathway (PubMed:29408807).
Entrez Zusammenfassung
The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene.
Rolle bei Krankheiten
Deafness, autosomal recessive, 26: A form of non-syndromic sensorineural deafness characterized by prelingual, severe to profound hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Sequenzähnlichkeiten
Belongs to the GAB family.
Posttranslationale Modifikation
Phosphorylated in response to FGFR1 activation. Phosphorylated on tyrosine residue(s) by the epidermal growth factor receptor (EGFR) and the insulin receptor (INSR). Tyrosine phosphorylation of GAB1 mediates interaction with several proteins that contain SH2 domains. Phosphorylated on tyrosine residues by HCK upon IL6 signaling.
