CAMLG Polyclonal Antibody, 20ul Endonucleases & Exonucleases Expansion of a GGGGCC repeat

Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778

Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified

This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol

or other inflammatory stimuli

which plays a role in bone

CAMLG Polyclonal Antibody, 20ul Endonucleases & Exonucleases Expansion of a GGGGCC repeatThe immunosuppressant drug cyclosporin A blocks a calcium dependent signal from the T cell receptor (TCR) that normally leads to T cell activation. When bound to cyclophilin B, cyclosporin A binds and inactivates the key signaling intermediate calcineurin. The protein encoded by this gene functions similarly to cyclosporin A, binding to cyclophilin B and acting downstream of the TCR and upstream of calcineurin by causing an influx of calcium. This