2024
DOI: 10.3390/ijms251910665
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Syntaxin 3B: A SNARE Protein Required for Vision

Himani Dey,
Mariajose Perez-Hurtado,
Ruth Heidelberger

Abstract: Syntaxin 3 is a member of a large protein family of syntaxin proteins that mediate fusion between vesicles and their target membranes. Mutations in the ubiquitously expressed syntaxin 3A splice form give rise to a serious gastrointestinal disorder in humans called microvillus inclusion disorder, while mutations that additionally involve syntaxin 3B, a splice form that is expressed primarily in retinal photoreceptors and bipolar cells, additionally give rise to an early onset severe retinal dystrophy. In this r… Show more

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