Medical

ATP6V0A4

ATP6V0A4

A gene on chromosome 7q34 that encodes a subunit of H+-ATPase (also known as V-ATPase, vacuolar ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles, which is required for an array of molecular processes, including protein sorting, zymogen activation, receptor-mediated endocytosis and synaptic vesicle proton gradient generation.
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References in periodicals archive
Primer dRTA otozomal dominant (SLC4A1 geni) veya resesif olabilir (ATP6V1B1 veya ATP6V0A4 genleri).
Distal tubulun [alpha]-interkalat hucrelerinden H1 iyonlannin salgilanamamasi hasarli vakuolar H1-ATPaz (ATP6V1B1 veya ATP6V0A4 genleri) veya bir hasarlt C1_/HCO3_ anyon degistiriei-1 (SLC4A1 geni) tarafindan ortaya vicar.
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