C9orf72 Antibody (C-term) [APR11262G]

C9orf72 Antibody (C-term) [APR11262G] | Gentaur UK, US & Europe Distribution

Product Category: Polyclonal Antibodies

Host: Rabbit

Species Reactivity: H

Specificity: This C9orf72 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 396-424 amino acids from the C-terminal region of human C9orf72.

Cellular Localisation: Nucleus. Cytoplasm. Cytoplasm, P-body. Cytoplasm, Stress granule. Endosome Lysosome Cytoplasmic vesicle, autophagosome Secreted. Cell projection, axon. Cell projection, growth cone. Perikaryon {ECO:0000250|UniProtKB:Q6DFW0}. Note=Detected in the cytoplasm of neurons from brain tissue (PubMed:21944778) . Detected in the nucleus in fibroblasts (PubMed:21944779) . During corticogenesis, transitions from being predominantly cytoplasmic to a more even nucleocytoplasmic distribution (By similarity) . {ECO:0000250|UniProtKB:Q6DFW0, ECO:0000269|PubMed:21944778, ECO:0000269|PubMed:21944779, ECO:0000269|PubMed:27037575} [Isoform 2]: Nucleus membrane; Peripheral membrane protein. Nucleus. Note=Detected at the nuclear membrane of cerebellar Purkinje cells and spinal motor neurons. Also shows diffuse nuclear expression in spinal motor neurons

Molecular Weight: 54328

Clone: Polyclonal

Gene Name: C9orf72 (HGNC:28337)

Gene ID: 203228

Function: Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:27193190, PubMed:27103069, PubMed:27617292, PubMed:28195531) . 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 (PubMed:27103069) . 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 (PubMed:27617292) . 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 (PubMed:27334615) . Acts as a regulator of mTORC1 signaling by promoting phosphorylation of mTORC1 substrates (PubMed:27559131) . Plays a role in endosomal trafficking (PubMed:24549040) . May be involved in regulating the maturation of phagosomes to lysosomes (By similarity) . Regulates actin dynamics in motor neurons by inhibiting the GTP-binding activity of ARF6, leading to ARF6 inactivation (PubMed:27723745) . This reduces the activity of the LIMK1 and LIMK2 kinases which are responsible for phosphorylation and inactivation of cofilin, leading to cofilin activation (PubMed:27723745) . Positively regulates axon extension and axon growth cone size in spinal motor neurons (PubMed:27723745) . Plays a role within the hematopoietic system in restricting inflammation and the development of autoimmunity (By similarity) .

Summary: Tissue Location: Both isoforms are widely expressed, including kidney, lung, liver, heart, testis and several brain regions, such as cerebellum. Also expressed in the frontal cortex and in lymphoblasts (at protein level) .

Form: Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.

Storage: Maintain refrigerated at 2-8°C for up to 2 weeks. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.

Application: WB

Dilution: WB--1:1000

Synonyms: Protein C9orf72, C9orf72