Human Atp Synthase Subunit Beta, Mitochondrial, ATP5B ELISA Kit, 96T Filtration 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

Neurofilaments are type IV intermediate filament heteropolymers composed of light

The encoded protein acts as a scaffold component for receptor tyrosine kinase signaling and may mediate crosstalk between different signaling pathways

This protein shares limited sequence similarity with E1A and binds both the general transcription factor TBP and the tumor suppressor pRb in vitro

but not by resting

Human Atp Synthase Subunit Beta, Mitochondrial, ATP5B ELISA Kit, 96T Filtration Expansion of a GGGGCC repeat