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STXBP2 Deficiency

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Encyclopedia of Medical Immunology

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Introduction

STXBP2 is located at 19p13 and encodes Munc18-2, a 19-exon, 593 amino acid, 66 kDa protein that is highly expressed in hematopoietic cells (Côte et al. 2009; zur Stadt et al. 2009).

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 pathway, lytic granules are tethered to the plasma membrane through interactions between Rab27a and Munc13-4. Syntaxin-11 and Munc18-2 then work cooperatively to enable lytic granule secretion. During degranulation, syntaxin-11 localizes to the plasma membrane at immunologic synapses to promote docking of lytic granules. This initial syntaxin-11 plasma membrane localization requires Munc18-2 (Dieckmann et al. 2015). In human cytotoxic T cells, syntaxin-11 then complexes with SNAP23 and...

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Authors and Affiliations

  1. Section of Immunology, Allergy, and Retrovirology, Texas Children’s Hospital, Houston, TX, USA

    Ivan K. Chinn

  2. William T. Shearer Center for Human Immunobiology, Texas Children’s Hospital, Houston, TX, USA

    Ivan K. Chinn

  3. Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA

    Ivan K. Chinn

Authors
  1. Ivan K. Chinn
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Correspondence to Ivan K. Chinn .

Editor information

Editors and Affiliations

  1. Molecular Biology, Monash University Dept. Biochemistry &, Clayton, VIC, Australia

    Ian MacKay

  2. Autoimmune Disease Research Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    Noel R. Rose

Section Editor information

  1. Division of Allergy and Immunology, Department of Pediatrics, Baylor College of Medicine, Texas Children’s Hospital, The Woodlands, TX, USA

    Javier Chinen

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Chinn, I.K. (2020). STXBP2 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_203-1

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  • DOI: https://doi.org/10.1007/978-1-4614-9209-2_203-1

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  • Print ISBN: 978-1-4614-9209-2

  • Online ISBN: 978-1-4614-9209-2

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