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.

Guanine nucleotide exchange factor C9orf72, C9orf72, DENND9, DENNL72

q96lt7

WB

WB 1:5000

Human,Mouse,Rat

Rabbit

Predicted size: 54 kDa

Nucleus, Cytoplasm.

Recombinant Rabbit monoclonal

IgG

Protein A affinity purified.

Liquid

PBS (pH7.4), 0.1% BSA, 40% Glycerol. Preservative: 0.05% Sodium Azide.

Store at +4°C short term. Store at -20°C long term. Avoid freeze / thaw cycle.