ARL6IP6 Protein, Human, Recombinant (mFc)

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.

规格	价格/CNY		货期	数量
100 μg	￥ 4,460	5日内发货

规格

价格/CNY

货期

数量

100 μg

￥ 4,460

5日内发货

生物活性

Testing in progress

产品描述

种属	Human
表达系统	HEK293
标签	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.
蛋白纯度	> 95 % as determined by SDS-PAGE
分子量	38.6 kDa (predicted)

内毒素	< 1.0 EU per μg protein as determined by the LAL method.
缓冲液	Lyophilized from sterile PBS, pH 7.4. Please contact us for any concerns or special requirements. Normally 5 % - 8 % trehalose, mannitol and 0. 01% Tween 80 are added as protectants before lyophilization. Please refer to the specific buffer information in the hard copy of CoA.
复溶方法	A hardcopy of datasheet with reconstitution instructions is sent along with the products. Please refer to it for detailed information.
存储	Samples are stable for up to twelve months from date of receipt at -20℃ to -80℃. Store it under sterile conditions at -20℃ to -80℃. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.
运输方式	In general, recombinant proteins are provided as lyophilized powder which are shipped at ambient temperature.Bulk packages of recombinant proteins are provided as frozen liquid. They are shipped out with blue ice unless customers require otherwise.
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.

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复溶计算器

重组蛋白稀释计算器

比活力计算器

Volume (to add to vial)

Mass (in vial)

Desired Reconstitution Concentration

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ARL6IP6 Protein, Human, Recombinant (mFc)

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