The Luka Shai Foundation was established in 2022 to support research, provide advocacy and further communities impacted by rare diseases.

is to cure V-ATPase deficiencies. Using a mechanistic approach to science, we want to correct the pathways impacted by this subset of mutations. We believe biological pathways are integrated and interconnected. By improving the mechanism, we can, not only solve the immediate mutation, but treat a variety of rare disease mutations and alleviate a multitude of symptoms.

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.