C9orf72 Recombinant Rabbit Monoclonal Antibody - BSA and Azide free [PSH11-11] (HA751395)

UNIPROT #

Q96LT7

PROTEIN NAME

C9orf72

SYNONYMS

ALSFTD antibody;C9orf72 antibody;chromosome 9 open reading frame 72 antibody;CI072_HUMAN antibody;FTDALS antibody;MGC23980 antibody;Protein C9orf72 antibody;RP11-27J8.2 antibody;Uncharacterized protein C9orf72 antibody

SUBCELLULAR LOCATION

Nucleus, Cytoplasm.

FUNCTION

C9orf72 (chromosome 9 open reading frame 72) is a protein which in humans is encoded by the gene C9orf72. The protein is found in many regions of the brain, in the cytoplasm of neurons as well as in presynaptic terminals. C9ORF72 is predicted to be a full-length homologue of DENN proteins (where DENN stands for "differentially expressed in normal and neoplastic cells"). These proteins have a conserved DENN module consisting of an N-terminal longin domain, followed by the central DENN and C-terminal alpha-helical d-DENN domains. This led to DENNL72 being suggested as a new name for C9orf72. Given the molecular role of known DENN modules, the C9ORF72-like proteins were predicted to function as guanine nucleotide exchange factors (GEF), which activate small GTPases, most likely a Rab. Studies have provided some evidence to confirm this: C9ORF72 was found to regulate endosomal trafficking and autophagy in neuronal cells and primary neurons. This suggested that certain aspects of the ALS and FTD disease pathology might result from haploinsufficiency of C9ORF72, leading to a defect in intracellular membrane traffic, which adds to neuronal damage from RNA-mediated and dipeptide toxicities by reducing function of microglia, the macrophage-like cells of the brain.