Article

Syndromic deafness gene ATP6V1B2 controls degeneration of spiral ganglion neurons through modulating proton flux

2021-04-26

Abstract excerpt

<title>Abstract</title> <p><italic>ATP6V1B2</italic> encodes the V1B2 subunit in V-ATPase, a proton pump responsible for the acidification of lysosomes. Mutations in this gene cause DDOD syndrome, DOORS syndrome, and Zimmermann-Laband syndrome, which share overlapping feature of congenital sensorineural deafness, onychodystrophy, and different extents of intellectual disability without or with epilepsy. However,...

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Literature Corpus work: b72ffb50-fc7f-5e6e-8fb4-f19087d3e154
DOI: 10.21203/rs.3.rs-452428/v1

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