Mutations in exons 3 and 7 resulting in truncated expression of human ATP6V1B1 gene showing structural variations contributing to poor substrate binding-causative reason for distal renal tubular acidosis with sensorineural deafness.

doi:10.1080/07391102.2014.999704

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Article

Mutations in exons 3 and 7 resulting in truncated expression of human ATP6V1B1 gene showing structural variations contributing to poor substrate binding-causative reason for distal renal tubular acidosis with sensorineural deafness.

Journal of biomolecular structure & dynamics - 1 Jan 2015

Kumar Pasupuleti Santhosh, Venkatesh Katari, Sowjenya Gopal, Srikanth Lokanathan, Sunitha Manne Mudhu, Prasad Uppu Venkateswara, Swarupa Vimjam, Yeswanth Sthanikam, Naveen P Sri Ram, Sridhar A, Kumar V Siva, Sarma P V G K

Abstract excerpt

Distal renal tubular acidosis (dRTA) is an autosomal recessive syndrome results defect in either proximal tubule bicarbonate reabsorption or in distal tubule H(+) secretion and is characterized by severe hyperchloraemic metabolic acidosis in childhood. dRTA is associated with functional variations in the ATP6V1B1 gene encoding β1 subunit of H(+)-ATPase, key membrane transporters for net acid excretion of...

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PMID: 25517796
DOI: 10.1080/07391102.2014.999704

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