C9orf72 Antibody

Background

C9orf72 (Chromosome 9 Open Reading Frame 72) plays an important role in the regulation of endosomal trafficking and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. It is a component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy. In the complex, C9orf72 and SMCR8 probably constitute the catalytic subunits that promote the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation. The C9orf72-SMCR8 complex also acts as a regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and modulating its protein kinase activity. It positively regulates initiation of autophagy by regulating the RAB1A-dependent trafficking of the ATG1/ULK1 kinase complex to the phagophore which leads to autophagosome formation. And acts as a regulator of mTORC1 signaling by promoting phosphorylation of mTORC1 substrates. C9orf72 may be involved in regulating the maturation of phagosomes to lysosomes. It regulates actin dynamics in motor neurons by inhibiting the GTP-binding activity of ARF6, leading to ARF6 inactivation. This reduces the activity of the LIMK1 and LIMK2 kinases which are responsible for phosphorylation and inactivation of cofilin, leading to cofilin activation. It positively regulates axon extension and axon growth cone size in spinal motor neurons. C9orf72 plays a role within the hematopoietic system in restricting inflammation and the development of autoimmunity. Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients. Diseases associated with C9orf72 include Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 and Huntington Disease-Like Syndrome Due To C9orf72 Expansions. Anti-C9orf72 Antibody is useful for researchers interested in Neuroscience Research.