GAB1 è un gene codificato dal simbolo GAB1. Comunemente indicato anche come: GRB2-associated-binding protein 1; GRB2-associated binder 1; Growth factor receptor bound protein 2-associated protein 1. GAB1 ha una massa di 76.62kDa, una lunghezza di amminoacidi di 694, ed è implicato in Deafness, autosomal recessive, 26.
Offriamo 17 anticorpi contro GAB1, allevati nel Coniglio, che sono adatti per WB, IHC, ELISA e ICC/IF con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
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).
Sommario di Entrez
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.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the GAB family.
Modifica post-translazionale
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.
