Article

Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5

2020-03-31

Abstract excerpt

The SNARE (soluble N-ethylmaleimide-sensitive factor attachment protein receptor) protein syntaxin-5 (Stx5) is essential for Golgi transport. In humans, the STX5 mRNA encodes two protein isoforms, Stx5 Long (Stx5L) from the first starting methionine and Stx5 Short (Stx5S) from an alternative starting methionine at position 55. In this study, we identify a human disorder caused by a single missense substitution in...

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Literature Corpus work: b84810f1-d16f-52a0-b1a5-39cf7a9866aa
DOI: 10.1101/2020.03.30.20044438

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