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Article

Functional Assessment In Vivo of the Mouse Homolog of the Human Ala-9-Ser NHE6 Variant.

eNeuro - 1 Jan 2000

Ouyang Qing, Joesch-Cohen Lena, Mishra Sasmita, Riaz Hasib A, Schmidt Michael, Morrow Eric M

Abstract excerpt

Christianson syndrome (CS) is an X-linked neurogenetic disorder resulting from loss-of-function (LoF) mutations in SLC9A6, which encodes the endosomal Na+/H+ exchanger 6 (NHE6). NHE6 regulates proton efflux from endosomes and, thus, participates in regulating cargo processing and trafficking. LoF mutations in NHE6 cause aberrant acidification of endosomes. While CS arises in males generally due to clear LoF...

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Identifiers

PMID: 31676550
DOI: 10.1523/ENEURO.0046-19.2019
PMCID: PMC6893231

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