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 change in an amino acid, which reduces the function of the ATP6AP2 protein. This protein plays a key role in assembling the V-ATPase complex, also known as the Proton Pump, which helps regulate cellular balance.
This mutation is part of a broader group of V-ATPase defects, which have been linked to lysosomal storage disorders, congenital disorders of glycosylation (CDG), and neurological conditions.