Article

A 94-bp Deletion in the Promoter of the Beta-Cell Disallowed gene <i>SLC16A1</i> causing Adult-onset Hyperinsulinism

2025-12-18

Abstract excerpt

Non-coding variants in the promoter region of SLC16A1 , a beta-cell-disallowed gene encoding Monocarboxylate Transporter 1 (MCT1), cause exercise-induced hyperinsulinism (EIHI). These variants are thought to cause aberrant expression of MCT1 in pancreatic beta-cells, enabling pyruvate uptake during exercise which triggers inappropriate insulin secretion. We identified a 94-bp deletion in the SLC16A1 promoter in...

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Literature Corpus work: aa1015cc-18da-54c8-ba1b-fed6ae1bb9cb
DOI: 10.64898/2025.12.16.25342131

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