ARL6IP6 Protein, Human, Recombinant (mFc)

一键复制产品信息

SPR兼容缓冲液

ARL6IP6 Protein, Human, Recombinant (mFc)

产品编号 TMPY-00344

It had been found that a homozygous truncating mutation in ARL6IP6 as the likely cause of a syndromic form of CMTC associated with major dysmorphism, developmental delay, transient ischemic attacks and cerebral vascular malformations. This gene was previously implicated by genome wide association study (GWAS) as a susceptibility locus to ischemic stroke in young adults. We identify ARL6IP6 as a novel candidate gene for a syndromic form of CMTC. This suggests that ischemic stroke or transient ischemic attacks (TIA) may represent, at least in some cases, the mild end of a phenotypic spectrum that has at its severe end autosomal recessive CMTC. This finding contributes to a growing appreciation of the continuum of Mendelian and common complex diseases.

ARL6IP6 Protein, Human, Recombinant (mFc)

一键复制产品信息

SPR兼容缓冲液

产品编号 TMPY-00344

规格	价格	库存
5 μg	¥ 493	6-8日内发货
10 μg	¥ 790	6-8日内发货
20 μg	¥ 1,330	5日内发货
50 μg	¥ 2,580	5日内发货
100 μg	¥ 5,170	5日内发货

大包装 & 定制

加入购物车

TargetMol 的所有产品仅用作科学研究或药证申报，不能被用于人体，我们不向个人提供产品和服务。请您遵守承诺用途，不得违反法律法规规定用于任何其他用途。

实验操作小课堂

常见问题解答

资源下载

重组蛋白用户指南

产品信息

生物活性	Activity testing is in progress. It is theoretically active, but we cannot guarantee it. If you require protein activity, we recommend choosing the eukaryotic expression version first.
产品描述	It had been found that a homozygous truncating mutation in ARL6IP6 as the likely cause of a syndromic form of CMTC associated with major dysmorphism, developmental delay, transient ischemic attacks and cerebral vascular malformations. This gene was previously implicated by genome wide association study (GWAS) as a susceptibility locus to ischemic stroke in young adults. We identify ARL6IP6 as a novel candidate gene for a syndromic form of CMTC. This suggests that ischemic stroke or transient ischemic attacks (TIA) may represent, at least in some cases, the mild end of a phenotypic spectrum that has at its severe end autosomal recessive CMTC. This finding contributes to a growing appreciation of the continuum of Mendelian and common complex diseases.
种属	Human
表达系统	HEK293 Cells
标签	N-mFc
蛋白编号	Q8N6S5
别名	PFAAP1,AIP-6,ADP-ribosylation factor-like 6 interacting protein 6
蛋白构建	A DNA sequence encoding the human ARL6IP6 (NP_689735.1) (Met1-Ser110) was expressed with the Fc region of mouse IgG1 at the N-terminus. Predicted N terminal: Asp
蛋白纯度	> 95 % as determined by SDS-PAGE
分子量	38.6 kDa (predicted)
内毒素	< 1.0 EU/μg of the protein as determined by the LAL method.
蛋白性状	Lyophilized powder
缓冲液	Lyophilized from a solution filtered through a 0.22 μm filter, containing PBS, pH 7.4. Typically, a mixture containing 5% to 8% trehalose, mannitol, and 0.01% Tween 80 is incorporated as a protective agent before lyophilization.
复溶方法	A Certificate of Analysis (CoA) containing reconstitution instructions is included with the products. Please refer to the CoA for detailed information.
存储	It is recommended to store recombinant proteins at -20°C to -80°C for future use. Lyophilized powders can be stably stored for over 12 months, while liquid products can be stored for 6-12 months at -80°C. For reconstituted protein solutions, the solution can be stored at -20°C to -80°C for at least 3 months. Please avoid multiple freeze-thaw cycles and store products in aliquots.
运输方式	In general, Lyophilized powders are shipping with blue ice.
研究背景	It had been found that a homozygous truncating mutation in ARL6IP6 as the likely cause of a syndromic form of CMTC associated with major dysmorphism, developmental delay, transient ischemic attacks and cerebral vascular malformations. This gene was previously implicated by genome wide association study (GWAS) as a susceptibility locus to ischemic stroke in young adults. We identify ARL6IP6 as a novel candidate gene for a syndromic form of CMTC. This suggests that ischemic stroke or transient ischemic attacks (TIA) may represent, at least in some cases, the mild end of a phenotypic spectrum that has at its severe end autosomal recessive CMTC. This finding contributes to a growing appreciation of the continuum of Mendelian and common complex diseases.