MAB21L2 Antibody, Biotin conjugated

說明書

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) MAB21L2 Polyclonal antibody
Uniprot No.：

Q9Y586
基因名：

MAB21L2
別名：

MAB21L2 antibody; Protein mab-21-like 2 antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Protein mab-21-like 2 protein (1-300AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

Biotin
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
應用范圍：

ELISA
Protocols：

ELISA Protocol
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：

Required for several aspects of embryonic development including normal development of the eye.
基因功能參考文獻：
1. mab21 gene family members, mab21l1 and mab21l2, play important roles in regulating eye development. [review] PMID: 27558071
2. The two unrelated individuals with a novel oculo-skeletal syndrome with intellectual disability described are heterozygous carriers of the same de novo missense mutation c.151C > T (p.Arg51Cys) in MAB21L2. PMID: 26116559
3. These findings support the identification of MAB21L2 as a novel factor involved in human coloboma and highlight the power of genome editing manipulation in model organisms for analysis of the effects of whole exome variation in humans. PMID: 25719200
4. This report provides compelling human genomic and genetic evidence that mutations in MAB21L2 cause major eye malformations. PMID: 24906020
相關疾?。?/div>
Microphthalmia/coloboma and skeletal dysplasia syndrome (MCSKS)
亞細胞定位：

Nucleus. Cytoplasm.
蛋白家族：

Mab-21 family
數據庫鏈接：

HGNC: 6758

OMIM: 604357

KEGG: hsa:10586

STRING: 9606.ENSP00000324701

UniGene: Hs.584852

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