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CI072 rabbit pAb

CAT: 0855-ES17460-01Size: 50 µLDry Ice: NoHazardous: No
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CAT#:0855-ES17460-01Size:50 µL
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Background
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]
Description
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],
UniProt
Q96LT7
Swiss Prot
Q96LT7
Reactivity
Human; Mouse; Rat
Immunogen
Synthesized peptide derived from human CI072 AA range: 188-238
Target
CI072
Clonality
Polyclonal
Source
Rabbit
Applications
WB
Concentration
1 mg/ml
Dilution
WB 1:500-2000
Buffer
-20°C/1 year
Storage Conditions
-20°C/1 year
Fragment
IgG
Subcellular Location
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]: Nuc
Gene ID (Human)
203228

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