NBEAL2 Antibody, Biotin conjugated

产品详情

产品名称：

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

Q6ZNJ1
基因名：

NBEAL2
别名：

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

Rabbit
反应种属：

Human
免疫原：

Recombinant Human Neurobeachin-like protein 2 protein (1360-1574AA)
免疫原种属：

Homo sapiens (Human)
标记方式：

Biotin
克隆类型：

Polyclonal
抗体亚型：

IgG
纯化方式：

>95%, Protein G purified
浓度：

It differs from different batches. Please contact us to confirm it.
保存缓冲液：

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

Liquid
应用范围：

ELISA
Protocols：

ELISA Protocol
储存条件：

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

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.
基因功能参考文献：
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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相关疾病：

Gray platelet syndrome (GPS)
亚细胞定位：

Endoplasmic reticulum.
蛋白家族：

WD repeat neurobeachin family
组织特异性：

Expressed in megakaryocytes.
数据库链接：

HGNC: 31928

OMIM: 139090

KEGG: hsa:23218

STRING: 9606.ENSP00000415034

UniGene: Hs.437043