Literature associating ATP6V1A and autosomal recessive cutis laxa type IIA
ATP6V1A [ENSP00000273398]
V-type proton ATPase catalytic subunit A; Catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation . May play a role in neurite development and synaptic connectivity ; Belongs to the ATPase alpha/beta chains family.
Synonyms: ATP6V1A, ATP6V1Ap, hATP6V1A, C9JA17, C9JVW8 ...