Insulin R Polyclonal Antibody, 50ul[BT-AP04564] NGS Oligos and expansion of this repeat

and expansion of this repeat from the normal 6 copies to 8-13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease

but with much lower efficiency

Calcium binding to synaptotagmin-1 participates in triggering neurotransmitter release at the synapse

GO annotations related to this gene include sodium channel activity and ligand-gated sodium channel activity

ephrin-A3 (Ehk1-L) as the ligand for EphA5 and ephrin-B2 (Htk-L) as the ligand for EphB4 (Htk)

Insulin R Polyclonal Antibody, 50ul[BT-AP04564] NGS Oligos and expansion of this repeatINSR encodes a member of the receptor tyrosine kinase family of proteins. Insulin receptor is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited