De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment
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DOI: 10.1007/s00439-018-1965-1
Abstract: ATP2B2 encodes the PMCA2 Ca2+ pump that plays an important role in maintaining ion homeostasis in hair cells among others by extrusion of Ca2+ from the stereocilia to the endolymph. Several mouse models have been… read more here.
Keywords: hearing impairment; variants atp2b2; loss function; rapidly progressive ... See more keywords