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 ...