MCTP2 Antibody, FITC conjugated

說明書

中文名稱：

MCTP2兔多克隆抗體, FITC偶聯(lián)
貨號：

CSB-PA738576LC01HU
規(guī)格：

￥880
其他：

產(chǎn)品詳情
產(chǎn)品評價
相關(guān)產(chǎn)品
靶點詳情

產(chǎn)品詳情

產(chǎn)品名稱：

Rabbit anti-Homo sapiens (Human) MCTP2 Polyclonal antibody
Uniprot No.：

Q6DN12
基因名：

MCTP2
別名：

MCTP2Multiple C2 and transmembrane domain-containing protein 2 antibody
宿主：

Rabbit
反應(yīng)種屬：

Human
免疫原：

Recombinant Human Multiple C2 and transmembrane domain-containing protein 2 protein (129-240AA)
免疫原種屬：

Homo sapiens (Human)
標(biāo)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(chǎn)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(chǎn)品評價

靶點詳情

功能：

Might play a role in the development of cardiac outflow tract.
基因功能參考文獻(xiàn)：
1. Results identify MCTP2 as a novel genetic cause of coarctation of the aorta and related cardiac malformations. PMID: 23773997
2. MCTPs are evolutionarily conserved C2 domain proteins that are unusual in that the C2 domains are anchored in the membrane by two closely spaced transmembrane regions and represent Ca(2+)-binding but not phospholipid-binding modules PMID: 15528213
3. The present study suggested that MCPT2 gene as aputative susceptibility gene for schizophrenia of Scandinavian origin. PMID: 19223264
相關(guān)疾病：

Heterozygosity for a 2.2-Mb deletion at chromosome 15q26.2, encompassing MCTP2, has been identified in a 10-year-old girl and her 3-year-old half brother, who had both coarctation of the aorta associated with dysmorphic features and ventricular septal defects. An intragenic MCTP2 duplication, leading to premature truncation (F697X) within the first transmembrane region of the protein, has also been observed in a male patient with a non-syndromic complex cardiac malformation involving coarctation, hypoplastic left heart, mitral atresia, bicuspid aortic valve and muscular ventricular septal defect. Although the link between left ventricular outflow tract malformations and MCTP2 could not be established, it has been proposed that defects in the MCTP2 gene may contribute to phenotype. This hypothesis is supported by the observation that Xenopus laevis embryos treated with MCTP2 morpholinos show no evidence of endocardial cushion formation at any level of the developing outflow tract (PubMed:23773997).
亞細(xì)胞定位：

Membrane; Multi-pass membrane protein.
蛋白家族：

MCTP family
數(shù)據(jù)庫鏈接：

HGNC: 25636

OMIM: 616297

KEGG: hsa:55784

STRING: 9606.ENSP00000350377

UniGene: Hs.33368

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