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Article

A novel SLC9A1 mutation causes cerebellar ataxia.

Journal of human genetics - 1 Oct 2018

Iwama Kazuhiro, Osaka Hitoshi, Ikeda Takahiro, Mitsuhashi Satomi, Miyatake Satoko, Takata Atsushi, Miyake Noriko, Ito Shuichi, Mizuguchi Takeshi, Matsumoto Naomichi

Abstract excerpt

The mammalian Na+/H+ exchanger isoform one (NHE1), encoded by Solute Carrier Family 9, member 1 (SLC9A1), consists of 12 membrane domains and a cytosolic C-terminal domain. NHE1 plays an important role in maintaining intracellular pH homeostasis by exchanging one intracellular proton for one extracellular sodium ion. Mice with a homozygous null mutation in Slc9a1 (Nhe1) exhibited ataxia, recurrent seizures, and...

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PMID: 30018422
DOI: 10.1038/s10038-018-0488-x

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

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