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Human ARL6IP6 Protein, mFc Tag

Human ARL6IP6 Protein, mFc Tag

产品编号

KMP3157

别名

ADP 核糖基化因子样 GTPase 6 相互作用蛋白 6, Human ARL6IP6 Protein, mFc Tag, ARL6IP6

规格
  • 50ug
  • 100ug
  • 200ug
产品介绍
AliasADP 核糖基化因子样 GTPase 6 相互作用蛋白 6, Human ARL6IP6 Protein, mFc Tag, ARL6IP6
Catalog NumberKMP3157
Product DescriptionThe Human ARL6IP6 Protein(KMP3157) is produced in HEK293 Cells. The target gene encoding the human ARL6IP6 (NP_689735.1) (Met1-Ser110) is expressed with the Fc region of mouse IgG1 at the N-terminus.
Molecular NameARL6IP6
SpeciesHuman
HostHEK293 Cells
Size50ug, 100ug, 200ug
Purity>95% as determined by SDS-PAGE
PurificationAffinity purification
Endotoxin<1.0 EU/ug determined by the LAL method
FormulationPBS, pH7.4
BackgroundIt 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.
Storage ConditionAliquot and store at -20℃ to -80℃. Avoid repeated freezing and thawing cycles.
Shipping ConditionIn general, recombinant proteins are provided as lyophilized powder which are shipped at ambient temperature. If supplied as liquid, the proteins will be shipped with dry ice.
Molecular Weight38.6 kDa

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