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TARDBP (基因名), TAR DNA-binding protein 43 (蛋白名), tadbp_human.
产品名称:

Human TARDBP/ TAR DNA-binding protein 43 Recombinant Protein
TARDNA结合蛋白43

货号:

R1951h

商标:
EIAab®
监管等级:
别名:

TDP-43, TDP43

序列号:
Q13148
来源:
E.coli
种属:
Human
标签:
His
序列:
141-370aa
预估分子量:
25.3 kDa (monomer)
纯度:
Greater than 90% by SDS-PAGE
浓度:
Reconstitution Dependent
形态:
Liquid
内毒素水平:
Please contact protein@eiaab.com The technician for more information.
应用:
存储缓冲液:
50mM NaH2PO4, 500mM NaCl Buffer with 500mM Imidazole, 10%glycerol(PH8.0)
存储:
Store at -20°C. (Avoid repeated freezing and thawing.)
研究领域:
Neurosciences
Human TARDBP Protein
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Human TARDBP Protein
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产品说明书
说明书: 下载说明书
MSDS: MSDS
在线询价


R&D 技术数据
Human TARDBP Protein
Recombinant human TARDBP protein was determined by 12% SDS-PAGE stained with Coomassie Blue under reducing conditions.
基因位点
Cytogenetic band: 1p36.22 by HGNC 1p36.22 by Entrez Gene 1p36.22 by Ensembl
TARDBP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
基因位点
通用注释


亚单元:
Homodimer. Interacts with BRDT (By similarity). Binds specifically to pyrimidine-rich motifs of TAR DNA and to single stranded TG repeated sequences. Binds to RNA, specifically to UG repeated sequences with a minimun of six contiguous repeats. Interacts with ATNX2; the interaction is RNA-dependent (PubMed:20740007). Interacts with MATR3 (PubMed:24686783). Interacts with UBQLN2 (PubMed:23541532). Interacts with HNRNPA2B1 (PubMed:19429692).


功能:
DNA and RNA-binding protein which regulates transcription and splicing. Involved in the regulation of CFTR splicing. It promotes CFTR exon 9 skipping by binding to the UG repeated motifs in the polymorphic region near the 3'-splice site of this exon. The resulting aberrant splicing is associated with pathological features typical of cystic fibrosis. May also be involved in microRNA biogenesis, apoptosis and cell division. Can repress HIV-1 transcription by binding to the HIV-1 long terminal repeat. Stabilizes the low molecular weight neurofilament (NFL) mRNA through a direct interaction with the 3' UTR.


亚细胞位置:
Nucleus In patients with frontotemporal lobar degeneration and amyotrophic lateral sclerosis, it is absent from the nucleus of affected neurons but it is the primary component of cytoplasmic ubiquitin-positive inclusion bodies.



[1].
"High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis."

[2].
"Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs."

[3].
"Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis."

[4].
"TDP-43 dimerizes in human cells in culture."

[5].
"Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS."

[6].
"TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration."

[7].
"Genetic association analysis between TDP-43 polymorphisms and Alzheimer's disease in a Japanese population."

[8].
"Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis."

[9].
"TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations."

[10].
"TDP-43 A315T mutation in familial motor neuron disease."
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