Cat. No. | Product Name | Species | Expression System |
---|---|---|---|
TMPY-00344 |
ARL6IP6 Protein, Human, Recombinant (mFc)
PFAAP1,AIP-6,ADP-ribosylation factor-like ... |
Human | HEK293 Cells |
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 isc... |