ARL6IP6 Protein, Human, Recombinant (mFc)
Ref. TM-TMPY-00344
| 100µg | 686.00 € |
Product Information
- PFAAP1, AIP-6, ADP-ribosylation factor-like 6 interacting protein 6
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.
Chemical properties
Technical inquiry about: TM-TMPY-00344 ARL6IP6 Protein, Human, Recombinant (mFc)
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