The protein encoded by this gene 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. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). 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 (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016],

CI072,C9orf72

Q96LT7,Q6DFW0,Q66HC3

Human,Mouse,Rat

WB,IHC,IF,ICC,ELISA

WB 1:1000-1:5000
IHC 1:500-1:2000
IF 1:200-1:1000
ICC 1:200-1:1000
ELISA 1:5000-1:20000

55kDa

Nucleus . Cytoplasm . Cytoplasm, P-body . Cytoplasm, Stress granule . Endosome . Lysosome . Cytoplasmic vesicle, autophagosome . Secreted . Cell projection, axon . Cell projection, growth cone . Perikaryon . 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). .; [Isoform 1]: Perikaryon . Cell projection, dendrite . Cell junction, synapse, presynapse . Cell junction, synapse, postsynapse . Expressed diffusely throughout the cytoplasm and dendritic processes of cerebellar Purkinje cells. Also expressed diffusely throughout the cytoplasm of spinal motor neurons. .; [Isoform 2]: Nucleus membrane ; Peripheral membrane protein . Nucleus . Detected at the nuclear membrane of cerebellar Purkinje cells and spinal motor neurons. Also shows diffuse nuclear expression in spinal motor neurons. .

Rabbit

Monoclonal

IgG,Kappa

PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA

-20°C/1 year(Do not lower than -25°C)