NPRL3 Antibody, FITC conjugated

說明書

中文名稱：

NPRL3兔多克隆抗體, FITC偶聯
貨號：

CSB-PA619643LC01HU
規格：

￥880
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) NPRL3 Polyclonal antibody
Uniprot No.：

Q12980
基因名：

NPRL3
別名：

otein antibody; Alpha-globin regulatory element-containing gene protein antibody; C16ORF35 antibody; CGTHBA antibody; Conserved gene telomeric to alpha globin cluster antibody; HS 40 antibody; MARE antibody; Nitrogen permease regulator 3-like protein antibody; Nitrogen permease regulator-like 3 (S. cerevisiae) antibody; NPR3 antibody; NPRL3 antibody; NPRL3_HUMAN antibody; Protein CGTHBA antibody; RMD11 antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human GATOR complex protein NPRL3 protein (349-482AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

FITC
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
產品提供形式：

Liquid
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

功能：

As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway.
基因功能參考文獻：
1. This study demonstrated that mutation of NPRL3 in familial focal epilepsies and focal cortical dysplasia. PMID: 27173016
2. NPRL3 mutations are significant cause of focal epilepsy. PMID: 26505888
3. Mutations in NPRL3 are a novel cause of familial cortical dysplasia. PMID: 26285051
4. NPRL3 is a candidate gene for harbouring mutations in individuals with developmental abnormalities of the cardiovascular system. PMID: 22538705
5. NPRL3 is a target gene of the BACH1 transcription factor according to ChIP-seq analysis in HEK 293 cells. PMID: 21555518
6. C16orf35 can modulate differentially the specific activities of selected p73 isoforms. PMID: 19666006
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相關疾病：

Epilepsy, familial focal, with variable foci 3 (FFEVF3)
亞細胞定位：

Lysosome membrane.
蛋白家族：

NPR3 family
組織特異性：

Widely expressed. Expressed in the frontal lobe cortex as well as in the temporal, parietal, and occipital lobes.
數據庫鏈接：

HGNC: 14124

OMIM: 600928

KEGG: hsa:8131

STRING: 9606.ENSP00000382834

UniGene: Hs.19699

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