ATP6V1B1 and Autosomal Recessive Distal Renal Tubular Acidosis: Association Evidence

Gene-Disorder Association · Article

Gene

ATP6V1B1

ATPase H+ Transporting V1 Subunit B1

Disorder

Autosomal Recessive Distal Renal Tubular Acidosis

First reported 2000

Supporting publications 2

Key publication · gene–disorder New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies.Pediatric nephrology (Berlin, Germany) · 2000

Key publication · disorder Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.Proceedings of the National Academy of Sciences of the United States of America · 1998

Manually curated

Association Review

In brief

The association between ATP6V1B1 (ATPase H+ Transporting V1 Subunit B1) and Autosomal Recessive Distal Renal Tubular Acidosis is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording a causative germline mutation.

Sources 2

Clinical variants 0

Symptoms 0

Compounds 0

Trials 0

Publications 2