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Article

The R130S mutation significantly affects the function of prestin, the outer hair cell motor protein.

Journal of molecular medicine (Berlin, Germany) - 1 Sept 2016

Takahashi Satoe, Cheatham Mary Ann, Zheng Jing, Homma Kazuaki

Abstract excerpt

UNLABELLED: A missense mutation, R130S, was recently found in the prestin gene, SLC26A5, of patients with moderate to severe hearing loss (DFNB61). In order to define the pathology of hearing loss associated with this missense mutation, a recombinant prestin construct harboring the R130S mutation (R130S-prestin) was generated, and its functional consequences examined in a heterologous expression system. We found...

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Identifiers

PMID: 27041369
DOI: 10.1007/s00109-016-1410-7
PMCID: PMC4992584

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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