DISEASES

Disease-gene associations mined from literature

Literature associating ATP6AP1 and lactose intolerance

ATP6AP1 [ENSP00000358777]

ATPase, H+ transporting, lysosomal accessory protein 1; Accessory subunit of the proton-transporting vacuolar (V)-ATPase protein pump, which is required for luminal acidification of secretory vesicles. Guides the V-type ATPase into specialized subcellular compartments, such as neuroendocrine regulated secretory vesicles or the ruffled border of the osteoclast, thereby regulating its activity. Involved in membrane trafficking and Ca(2+)-dependent membrane fusion. May play a role in the assembly of the V-type ATPase complex. 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.

Synonyms:  ATP6AP1,  ATP6AP1p,  hATP6AP1,  A6NLC6,  A6QRJ1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM