ATPase H+ transporting V0 subunit a4
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomalRenal tubulopathies
BIALLELIC, autosomal or pseudoautosomalDifferences in sex development
BIALLELIC, autosomal or pseudoautosomalMonogenic hearing loss
renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
autosomal recessive distal renal tubular acidosis
hereditary disease
distal renal tubular acidosis
Sensorineural hearing impairment
hearing loss disorder
renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
ovarian neoplasm
ulcerative colitis
Pancreatic pseudocyst
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
V-type proton ATPase 116 kDa subunit a 4
Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity). Involved in normal vectorial acid transport into the urine by the kidney (PubMed:10973252, PubMed:12414817)
ATP6V0A4 · Q9HBG4
Mean pLDDT
82.9/ 100
Confident
840 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
