Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Distal renal tubular acidosis with deafness (autosomal recessive)
ATP6V1B1

References:

1.

Stover EH et al. (2002) Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.

external link
2.

NCBI article

NCBI 525 external link
3.

OMIM.ORG article

Omim 192132 external link
4.

Orphanet article

Orphanet ID 118872 external link
5.

Wikipedia article

Wikipedia EN (ATP6V1B1) external link
Update: Aug. 14, 2020
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