C9orf72 Rabbit polyclonal antibody

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£152.00

SKU:: A15970
Additional Names:: ALSFTD|C9orf72|DENND9|DENNL72|FTDALS|FTDALS1
Application:: ELISA, WB, IHC-P, IF, ICC
Molecular Weight:: 50 kDa
Species Reactivity:: Human
Purification:: Affinity Purified
Storage Conditions:: -20[o]C 50% glycerol. Avoid freeze/thaw cycles.
Supplier:: Abclonal
Host:: Rabbit
Reactivities:: Human, Mouse, Rat
Immunogen:: Recombinant protein (or fragment).This information is considered to be commercially sensitive.
Formulation:: Unmodified
Sequence:: SPAVAKTEIALSGKSPLLAATFAYWDNILGPRVRHIWAPKTEQVLLSDGEITFLANHTLNGEILRNAESGAIDVKFFVLSEKGVIIVSLIFDGNWNGDRSTYGLSIILPQTELSFYLPLHRVCVDRLTHIIRKGRIWMHKERQENVQKIILEGTERMEDQGQSIIPMLTGEVIPVMELLSSMKSHSVPEEID
Uniprot:: Q96LT7
Synonyms:: ALSFTD;DENND9;DENNL72;FTDALS;FTDALS1;guanine nucleotide exchange C9orf72;protein C9orf72
Extra Details:: 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.

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