Aliases for ATP6V1E2 Gene
External Ids for ATP6V1E2 Gene
Previous HGNC Symbols for ATP6V1E2 Gene
Previous GeneCards Identifiers for ATP6V1E2 Gene
GeneCards Summary for ATP6V1E2 Gene
ATP6V1E2 (ATPase H+ Transporting V1 Subunit E2) is a Protein Coding gene. Diseases associated with ATP6V1E2 include Mental Retardation, X-Linked, Syndromic, Hedera Type and Amyotrophic Lateral Sclerosis 12. Among its related pathways are Synaptic vesicle cycle and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include proton-transporting ATPase activity, rotational mechanism and proton-exporting ATPase activity, phosphorylative mechanism. An important paralog of this gene is ATP6V1E1.
UniProtKB/Swiss-Prot Summary for ATP6V1E2 Gene
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).
H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane organelles such as vacuoles, lysosomes and endosomes.