SLITRK6 Antibody
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货号:CSB-PA021775GA01HU
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规格:¥3,900
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其他:
产品详情
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Uniprot No.:Q9H5Y7
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基因名:
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别名:4832410J21Rik antibody; DFNMYP antibody; MGC119595 antibody; MGC119596 antibody; MGC119597 antibody; OTTHUMP00000066012 antibody; SLIK6_HUMAN antibody; SLIT and NTRK like family member 6 antibody; SLIT and NTRK like protein 6 antibody; SLIT and NTRK-like protein 6 antibody; Slit and trk like 6 antibody; Slit and trk like gene 6 antibody; SLITRK 6 antibody; Slitrk6 antibody
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宿主:Rabbit
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反应种属:Human,Mouse,Rat
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免疫原:Human SLITRK6
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免疫原种属:Homo sapiens (Human)
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抗体亚型:IgG
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纯化方式:Antigen Affinity 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:PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
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产品提供形式:Liquid
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应用范围:ELISA,WB,IF
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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.
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靶点详情
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功能:Regulator of neurite outgrowth required for normal hearing and vision.
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基因功能参考文献:
- Analysis of two exons of SLITRK6 gene in a Moroccan family identify a novel single deleterious mutation c.696delG, p.Trp232Cysfs*10 at homozygous state in the exon 2 of the SLITRK6, a gene reported to cause deafness and myopia in various populations. PMID: 29551497
- Human cytomegalovirus downregulates SLITRK6 expression through IE2. PMID: 27530937
- SLITRK6 gene nonsense mutation is associated with progressive auditory neuropathy in humans. PMID: 23946138
- SLITRK6 plays a crucial role in the development of normal hearing as well as vision in humans and in mice and that its disruption leads to a syndrome characterized by severe myopia and deafness. PMID: 23543054
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相关疾病:Deafness and myopia (DFNMYP)
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亚细胞定位:Cell membrane; Single-pass type I membrane protein.
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蛋白家族:SLITRK family
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组织特异性:In adult brain, highly expressed in putamen with no expression in cerebral cortex. Expressed in adult and fetal lung and fetal liver. Also expressed at high levels in some brain tumors including medulloblastomas and primitive neuroectodermal tumors.
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数据库链接:
HGNC: 23503
OMIM: 221200
KEGG: hsa:84189
STRING: 9606.ENSP00000383143
UniGene: Hs.525105
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