ARL6IP6 Protein, Human, Recombinant (mFc)

• Catalog Number: orb1959216
• Category: Proteins
• Description: 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.
• Tag: N-mFc
• Purity: 98.00%
• MW: 38.6 kDa (predicted)
• UniProt ID: Q8N6S5
• Expression System: HEK293 Cells
• Biological Origin: Human
• Biological Activity: 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.
• Expression Region: 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
• Storage: -20°C
• Note: For research use only
• Application notes: A Certificate of Analysis (CoA) containing reconstitution instructions is included with the products. Please refer to the CoA for detailed information.
• Expiration Date: 6 months from date of receipt.