Vacuolar proton pump, subunit 3
The ATP6V1B1 gene encodes a component of the proton pump, which is present in various organs and organelles. The renal variety of the proton pump eliminates acids from the body. If this gene is mutated, renal proton excretion is impaired and acidosis ensues.
Genetests:
Related Diseases:
References:
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Stover EH et al. (2002) Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
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2. |
NCBI article
NCBI 525
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3. |
OMIM.ORG article
Omim 192132
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4. |
Orphanet article
Orphanet ID 118872
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5. |
Wikipedia article
Wikipedia EN (ATP6V1B1)
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Update: Aug. 14, 2020