Disease-gene associations mined from literature

Literature associating ATP6V1E2 and autosomal dominant severe congenital neutropenia

ATP6V1E2 [ENSP00000304891]

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 ...

Linkouts:  STRING  Pharos  UniProt