C9orf72 (clone 6D6F12), anti-human, mouse, rat, monkey
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In stock
SKU
BT-MCA4576
Catalog Number: BT-MCA4576
Size(s): 50μL, 100μL
Isotype: Mouse IgG2b
Reactivity: human, mouse, rat, monkey
Application(s): WB, IHC, ICC, FCM
Datasheet
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Size(s): 50μL, 100μL
Isotype: Mouse IgG2b
Reactivity: human, mouse, rat, monkey
Application(s): WB, IHC, ICC, FCM
Datasheet
Request Information
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.
Research Area: Epigenetics and nuclear signaling, Neuroscience
Synonyms: ALSFTD, DENND9, FTDALS, DENNL72, FTDALS1
Immunogen: Purified recombinant fragment of human C9orf72 (AA: 110-199) expressed in E. Coli.
Formulation: Purified antibody in PBS with 0.05% sodium azide
Storage:
4°C|-20°C for long term storage
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.
Research Area: Epigenetics and nuclear signaling, Neuroscience
Synonyms: ALSFTD, DENND9, FTDALS, DENNL72, FTDALS1
Immunogen: Purified recombinant fragment of human C9orf72 (AA: 110-199) expressed in E. Coli.
Formulation: Purified antibody in PBS with 0.05% sodium azide
Storage:
4°C|-20°C for long term storage
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