Literature associating ATP6V1E2 and autosomal dominant severe congenital neutropenia
ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2; Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. This isoform is essential for energy coupling involved in acidification of acrosome (By similarity).
Synonyms: ATP6V1E2, Q96A05, ATP6E1, ATP6EL2, ATP6V1EL2 ...