The Luka Shai Foundation was established in 2022 to support research, provide advocacy and further communities impacted by rare diseases.
We are committed to funding and promoting scientific research focused on understanding the intricacies of ATP6AP2 - related rare diseases and the underlying mechanisms of the V-ATPase complex. By supporting innovative research projects and collaborations, we aim to accelerate the development of effective treatments and ultimately find a cure.
OUR MISSION
Framing ATP6AP2 Research to Address Rare Disease & Therapeutics
CDG TYPE IIr
Luka’s mutation causes a single amino acid change resulting in reduced function in the ATP6AP2 protein. This protein is an assembly factor that mediates the formation of the V-ATPase complex, commonly known as the Proton Pump. This ATP6AP2 mutation belongs to a subset of V-ATPase defects linked to lysosomal storage disorders, congenital disorders of glycosylation, as well as neurological disorders.