Article

<i>ATP1A1</i> -linked diseases require a malfunctioning protein product from one allele

2023-03-05

Abstract excerpt

Heterozygous germline variants in ATP1A1 , the gene encoding the α1 subunit of the Na + /K + -ATPase (NKA), have been linked to diseases including primary hyperaldosteronism and the peripheral neuropathy Charcot-Marie-Tooth disease (CMT). ATP1A1 variants that cause CMT induce loss-of-function of NKA. This heterodimeric (αβ) enzyme hydrolyzes ATP to establish transmembrane electrochemical gradients of Na + and...

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Literature Corpus work: 8c3003e1-2ab8-54ab-9b91-eba5477e91cd
DOI: 10.1101/2023.03.05.531165

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