Atp6v1a - ATPase, H+ transporting, lysosomal V1 subunit A

Enables proton-transporting ATPase activity, rotational mechanism. Predicted to be involved in cellular iron ion homeostasis; cellular response to increased oxygen levels; and proton transmembrane transport. Predicted to act upstream of or within ion transport. Located in apical plasma membrane; cytosol; and microvillus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and sensory organ. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IID and developmental and epileptic encephalopathy 93. Orthologous to human ATP6V1A (ATPase H+ transporting V1 subunit A). [provided by Alliance of Genome Resources, Apr 2022]