DISEASES

Disease-gene associations mined from literature

Literature associating ATP6V1E2 and amyotrophic lateral sclerosis type 12

ATP6V1E2 [ENSP00000304891]

V-type proton ATPase subunit E 2; 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,  A0A140VKA8,  Q96A05,  Q96A05p,  hQ96A05 ...

Linkouts:  STRING  Pharos  UniProt