SLITRK6 Antibody

說明書

產品詳情

Uniprot No.：

Q9H5Y7
基因名：

SLITRK6
別名：

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
宿主：

Rabbit
反應種屬：

Human,Mouse,Rat
免疫原：

Human SLITRK6
免疫原種屬：

Homo sapiens (Human)
抗體亞型：

IgG
純化方式：

Antigen Affinity purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
產品提供形式：

Liquid
應用范圍：

ELISA,WB,IF
Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
Immunofluorescence (IF) 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：

Regulator of neurite outgrowth required for normal hearing and vision.
基因功能參考文獻：
1. 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
2. Human cytomegalovirus downregulates SLITRK6 expression through IE2. PMID: 27530937
3. SLITRK6 gene nonsense mutation is associated with progressive auditory neuropathy in humans. PMID: 23946138
4. 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
相關疾病：

Deafness and myopia (DFNMYP)
亞細胞定位：

Cell membrane; Single-pass type I membrane protein.
蛋白家族：

SLITRK family
組織特異性：

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.
數據庫鏈接：

HGNC: 23503

OMIM: 221200

KEGG: hsa:84189

STRING: 9606.ENSP00000383143

UniGene: Hs.525105

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