ZSWIM6 Antibody
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货号:CSB-PA884622LA01HU
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规格:¥440
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促销:
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图片:
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其他:
产品详情
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产品名称:Rabbit anti-Homo sapiens (Human) ZSWIM6 Polyclonal antibody
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Uniprot No.:Q9HCJ5
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基因名:ZSWIM6
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别名:KIAA1577 antibody; Zinc finger SWIM domain-containing protein 6 antibody; Zswim6 antibody; ZSWM6_HUMAN antibody
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宿主:Rabbit
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反应种属:Human
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免疫原:Recombinant Human Zinc finger SWIM domain-containing protein 6 protein (430-583AA)
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免疫原种属:Homo sapiens (Human)
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标记方式:Non-conjugated
本页面中的产品,ZSWIM6 Antibody (CSB-PA884622LA01HU),的标记方式是Non-conjugated。对于ZSWIM6 Antibody,我们还提供其他标记。见下表:
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克隆类型:Polyclonal
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抗体亚型:IgG
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纯化方式:>95%, Protein G purified
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浓度:It differs from different batches. Please contact us to confirm it.
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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
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应用范围:ELISA, IHC, IF
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推荐稀释比:
Application Recommended Dilution IHC 1:20-1:200 IF 1:50-1:200 -
Protocols:
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储存条件:Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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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.
相关产品
靶点详情
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功能:involved in nervous system development, important for striatal morphology and motor regulation.
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基因功能参考文献:
- 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
- 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
- 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
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相关疾病:Acromelic frontonasal dysostosis (AFND)
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数据库链接:
HGNC: 29316
OMIM: 603671
KEGG: hsa:57688
STRING: 9606.ENSP00000252744
UniGene: Hs.744939
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