Syntaxin-3

Definition:

Potentially involved in docking of synaptic vesicles at presynaptic active zones. Apical receptor involved in membrane fusion of apical vesicles.; [Isoform B]: Essential for survival of retinal photoreceetors.; [Isoform 3]: Functions as a regulator of gene expression.

References:

[1]. Adrian J Giovannone, et al. Soluble syntaxin 3 functions as a transcriptional regulator. J Biol Chem. 2018 Apr 13;293(15):5478-5491. [Content Brief]

[2]. Caroline L Wiegerinck, et al. Loss of syntaxin 3 causes variant microvillus inclusion disease. Gastroenterology. 2014 Jul;147(1):65-68.e10. [Content Brief]

[3]. Andreas R Janecke, et al. Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects. Hum Genet. 2021 Aug;140(8):1143-1156. [Content Brief]

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