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STX11 Deficiency

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Introduction

STX11 is located at 6q24 and encodes syntaxin-11, a 287 amino acid protein that is predominantly expressed in immunologic cells and platelets (zur Stadt et al. 2005). Syntaxin-11 is considered an atypical member of the syntaxin family of proteins because it lacks a transmembrane domain (zur Stadt et al. 2005; Spessott et al. 2017). Instead, it is held to the membrane by prenyl- and palmitoyl-lipid modifications (Spessott et al. 2017). Syntaxin-11 serves as a Qa-Soluble NSF Attachment Protein Receptor (SNARE) protein (Dieckmann et al. 2015; Halimani et al. 2014). SNARE proteins are key molecules that interact with each other to mediate fusion of cellular membranes.

Molecular Function

Cytotoxic T cells and NK cells kill target cells by mobilizing secretory granules containing perforin and other agents, such as granzyme, to the cellular membrane and releasing the contents into the intercellular space at the immunologic synapse. Toward the final steps of the degranulation...

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References

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Correspondence to Ivan K. Chinn .

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Chinn, I.K. (2020). STX11 Deficiency. In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_202-1

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  • DOI: https://doi.org/10.1007/978-1-4614-9209-2_202-1

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-9209-2

  • Online ISBN: 978-1-4614-9209-2

  • eBook Packages: Springer Reference MedicineReference Module Medicine

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