ZSWIM6 Antibody, Biotin conjugated

說明書

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) ZSWIM6 Polyclonal antibody
Uniprot No.：

Q9HCJ5
基因名：

ZSWIM6
別名：

KIAA1577 antibody; Zinc finger SWIM domain-containing protein 6 antibody; Zswim6 antibody; ZSWM6_HUMAN antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Zinc finger SWIM domain-containing protein 6 protein (430-583AA)
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：

involved in nervous system development, important for striatal morphology and motor regulation.
基因功能參考文獻：
1. This study builds support for a key role for ZSWIM6 in neuronal development and function, in addition to its putative roles in limb and craniofacial development, and provides a striking example of different variants in the same gene leading to distinct phenotypes. PMID: 29198722
2. A single recurrent heterozygous missense substitution in ZSWIM6, encoding a protein of unknown function, was previously shown to underlie this disorder in four unrelated cases. Here we describe four additional individuals from three families, comprising two sporadic subjects (one of whom had no limb malformation) and a mildly affected female with a severely affected son PMID: 26706854
3. Exome sequencing of one trio and two unrelated probands revealed the same heterozygous variant (c.3487C>T [p. Arg1163Trp])associated with acromelic frontonasal dysostosis in a highly conserved protein domain of ZSWIM6; this variant has not been seen in the 1000 Genomes data, dbSNP, or the Exome Sequencing Project PMID: 25105228
相關疾病：

Acromelic frontonasal dysostosis (AFND)
數據庫鏈接：

HGNC: 29316

OMIM: 603671

KEGG: hsa:57688

STRING: 9606.ENSP00000252744

UniGene: Hs.744939

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