Function
Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signaling by an activated GPCR promotes GDP release and GTP binding.
Biological Context
Subcellular Location: Cell membrane (Peripheral membrane protein); Nucleus; Cytoplasm; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm, cell cortex
Disease Association: Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities (NEDHISB) : An autosomal dominant disorder characterized by global developmental delay, impaired intellectual development, delayed or absent speech, hypotonia, behavioral abnormalities, and epilepsy that ranges from self-limiting to intractable. More variable features include non-specific dysmorphic facial features, distal skeletal anomalies, and brain imaging abnormalities. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Guanine nucleotide-binding protein G (i) subunit alpha-1 (GNAI1) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 2-354aa, with N-terminal 10xHis-tagged and C-terminal Myc-tagged tag, molecular weight 47.7kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
