NBEAL2 Antibody, FITC conjugated

說明書

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) NBEAL2 Polyclonal antibody
Uniprot No.：

Q6ZNJ1
基因名：

NBEAL2
別名：

BDPLT4 antibody; GPS antibody; NBEAL2 antibody; NBEL2_HUMAN antibody; Neurobeachin-like protein 2 antibody; UNQ253/PRO290 antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Neurobeachin-like protein 2 protein (1360-1574AA)
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.

功能：

Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, that contain several growth factors important for platelet biogenesis.
基因功能參考文獻：
1. Author observed absence of NBEAL2 in platelets from GPS patients with 3 different genotypes, and reduced/truncated platelet NBEAL2 has been reported for others. PMID: 29869935
2. NBEAL2 has an essential role in neutrophil and NK cell function and pathogen defense PMID: 28783043
3. we herein show a long-distance regulatory region with GATA1 binding sites as being a strong enhancer for NBEAL2 expression. PMID: 28082341
4. NBEAL2 mutation is associated with gray platelet syndrome. PMID: 21765411
5. Mutations in NBEAL2, encoding a BEACH protein is associated with gray platelet syndrome. PMID: 21765413
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相關疾病：

Gray platelet syndrome (GPS)
亞細胞定位：

Endoplasmic reticulum.
蛋白家族：

WD repeat neurobeachin family
組織特異性：

Expressed in megakaryocytes.
數據庫鏈接：

HGNC: 31928

OMIM: 139090

KEGG: hsa:23218

STRING: 9606.ENSP00000415034

UniGene: Hs.437043

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