Human ARL6IP6 Protein, mFc Tag

Product Information

Catalog Number	KMP3157
Product Name	Human ARL6IP6 Protein, mFc Tag
Product Description	The 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 Name	ARL6IP6
Alias	Human ARL6IP6 Protein, mFc Tag, ARL6IP6
Molecular Weight	38.6 kDa
Species	Human
Size	50ug, 100ug, 200ug
Host	HEK293 Cells
Purity	>95% as determined by SDS-PAGE
Endotoxin	<1.0 EU/ug determined by the LAL method
Buffer	PBS, pH7.4
Purification	Affinity purification
Background	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.
Storage	Aliquot and store at -20℃ to -80℃. Avoid repeated freezing and thawing cycles.
Note	This product is for research use only.

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