Order NO. D194981
产品描述
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.
应用
免疫印迹（WB）, 免疫组织化学（IHC）, 免疫荧光（IF）, 流式细胞术（FCM）
属性
| 保存缓冲液 |
-20°C, PBS (PH 7.4) containing 0.05% sodium azide.
|
| 运输条件 |
2-8°C
|
| 靶点 Uniprot 登记号 |
Q96LT7
|
| 靶点基因 ID |
203228
|
| 靶点全称 |
C9orf72-SMCR8 complex subunit
|
| 靶点别名 |
ALSFTD; DENND9; FTDALS; DENNL72; FTDALS1
|
| 靶点研究领域 |
Neuroscience, Epigenetics and Nuclear Signaling
|
| 亚型 |
IgG2b
|
