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DRTA2
Chr 2ARATPase H+ transporting V1 subunit B1
Also known as: ATP6B1, DRTA2, RTA1B, VATB, VMA2, VPP3
This gene encodes a kidney-specific B subunit isoform of vacuolar ATPase (V-ATPase), a multisubunit enzyme that acidifies intracellular organelles and is essential for processes including protein sorting, endocytosis, and synaptic vesicle function. Mutations cause autosomal recessive distal renal tubular acidosis with progressive sensorineural hearing loss, affecting both kidney and auditory systems. The condition involves impaired renal acid excretion leading to metabolic acidosis along with progressive hearing impairment.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DRTA2?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DRTA2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
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External Resources
Links to major genomics databases and tools