Order NO. D194981
產品描述
概述
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.
應用
免疫印跡（WB）, 免疫組織化學（IHC）, 免疫熒光（IF）, 流式細胞術（FCM）
屬性
| 保存緩衝液 |
-20°C, PBS (PH 7.4) containing 0.05% sodium azide.
|
| 運輸條件 |
2-8°C
|
| 靶點 Uniprot 登記號 |
Q96LT7
|
| 靶點基因 ID |
203228
|
| 靶點全稱 |
C9orf72-SMCR8 complex subunit
|
| 靶點別名 |
ALSFTD; DENND9; FTDALS; DENNL72; FTDALS1
|
| 靶點研究領域 |
Neuroscience, Epigenetics and Nuclear Signaling
|
| 亞型 |
IgG2b
|
