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.
Applications:Suitable for use in Western Blot and Immunohistochemistry.
Other applications not tested.
Recommended Dilution:Western Blot: 1:500-1:2000Immunohistochemistry: 1:50 - 1:100Optimal dilutions to be determined by the researcher.
AA Sequence:MSTLCPPPSPAVAKTEIALSGKSPLLAATFAYWDNILGPRVRHIWAPKTEQVLLSDGEITFLANHTLNGEILRNAESGAIDVKFFVLSEKGVIIVSLIFDGNWNGDRSTYGLSIILPQTELSFYLPLHRVCVDRLTHIIRKGRIWMHKERQENVQKIILEGTERMEDQGQSIIPMLTGEVIPVMELLSSMKSHSVPEEIDIADTVLNDDDIGDSCHEGFLLNAISSHLQT
Storage and Stability:May be stored at 4°C for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for 12 months after receipt.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size：200ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by affinity chromatography.
Form：Supplied as a liquid in PBS, pH 7.3, 0.02% sodium azide, 50% glycerol.
Specificity：Recognizes human C9orf72. Species Crossreactivity: mouse
Isotype：IgG
Calc Applications Abbrev：IHC WB
Calc Crossreactivity：Hu Mo
Immunogen：Recombinant fusion protein containing a sequence corresponding to aa1-230 of human C9orf72 (NP_060795.1).
