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ARL6IP6 Protein, Human, Recombinant (mFc)
(Synonyms: PFAAP1, AIP-6, ADP-ribosylation factor-like 6 interacting protein 6) Copy Product InfoSynonyms: PFAAP1, AIP-6, ADP-ribosylation factor-like 6 interacting protein 6
Catalog No. TMPY-00344 Copy Product Info
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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| Pack Size | Price | USA Stock | Global Stock | Quantity |
|---|---|---|---|---|
| 5 μg | $79 | 7-10 days | 7-10 days | |
| 10 μg | $129 | 7-10 days | 7-10 days | |
| 20 μg | $208 | 7-10 days | 7-10 days | |
| 50 μg | $419 | 7-10 days | 7-10 days | |
| 100 μg | $812 | 7-10 days | 7-10 days |
For In stock only · Estimated delivery: USA Stock (1-2 days) Global Stock (5-7 days)
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For research use only—not for human use. No sales to individuals. Use as intended only.
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Chemical Properties
Storage & Solubility Information
| 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. |
| Species | Human |
| Expression System | HEK293 Cells |
| Tag | N-mFc |
| Accession Number | Q8N6S5 |
| Construction | 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 |
| Protein Purity | > 95 % as determined by SDS-PAGE |
| Endotoxin | < 1.0 EU/μg of the protein as determined by the LAL method. |
| Formulation | 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. |
| Reconstitution | A Certificate of Analysis (CoA) containing reconstitution instructions is included with the products. Please refer to the CoA for detailed information. |
| Stability & Storage | 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. |
| Shipping | In general, lyophilized powders are shipped with blue ice, while solutions are shipped with dry ice. |
| Synonyms | PFAAP1, AIP-6, ADP-ribosylation factor-like 6 interacting protein 6 |
| Research Background |
| Molecular Weight | 38.6 kDa (predicted) |
| Storage | Lyophilized powder: -20~-80°C for 1 year | Solution: -80°C for 6 months |
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Related Tags: ARL6IP6 Protein, Human, Recombinant (mFc) chemical structure | ARL6IP6 Protein, Human, Recombinant (mFc) molecular weight
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