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DRTA3
Chr 7ARATPase H+ transporting V0 subunit a4
Also known as: A4, ATP6N1B, ATP6N2, DRTA3, RDRTA2, RTA1C, RTADR, STV1
This gene encodes the a4 subunit of vacuolar ATPase (V-ATPase), a multisubunit enzyme that acidifies intracellular compartments and is essential for protein sorting, endocytosis, and synaptic vesicle function. Biallelic mutations cause autosomal recessive distal renal tubular acidosis type 3, which may occur with or without sensorineural hearing loss. This condition affects the kidney's ability to acidify urine and can present with failure to thrive, nephrolithiasis, and nephrocalcinosis in infancy or childhood.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DRTA3?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
DRTA3 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →No publications found for DRTA3
External Resources
Links to major genomics databases and tools