ATP6V1B1
Renal System · Distal Nephron Acid-Base Regulation
Why do cells spend energy moving hydrogen ions?
ATP6V1B1 makes a subunit of the energy-driven V-ATPase proton pump. Controlling proton movement allows cells to maintain the acidity needed for specialized functions.
- Common Gene Name
- ATPase H+ transporting V1 subunit B1
- NCBI Gene ID
- 525
- Chromosome
- 2
Clinical Evidence Status
Established disease relationship
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (2 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss | ClinGen gene-disease validity | Definitive | Autosomal recessive | View source 2026-02-18 |
| Renal tubular acidosis with deafness | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2014-03 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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