SNX8
Description
The SNX8 (sorting nexin 8) is a protein-coding gene located on chromosome 7.
SNX8 is a sorting nexin protein involved in intracellular molecular traffic from the early endosomes to the trans-golgi network. It is suggested that it acts as an adaptor protein in events related to immune response and cholesterol regulation, for example. As a protein of the SNXs family, the SNX8 is formed of 465 aminoacids and presents a BAR domain and a PX domain which are very relevant in relation to its functions. Furthermore, SNX8 study is motivated by its medical significance in relation to diseases such as Alzheimer's Disease, cancer, neurodevelopmental malformations and to its role in fighting against viral infections.
== Structure ==
=== Sorting nexins (SNXs) ===
SNX8 belongs to the sorting nexin family of proteins, which mainly contain two functional membrane-binding that allow SNXs to have different roles in endosomal sorting and protein trafficking thanks to its membrane curvature ability. To begin with, SNX-PX is a distinct phosphoinositide (PI)-binding domain. The preferential interaction of this domain with membrane lipids makes the main function of SNX-PX the targeting of proteins to phosphatidylinositol-3-phosphate (PI(3)P) to endosomes. On the other hand, the BAR (Bin/amphiphysin/Rvs) domain is a key regulator of phosphoinositide-mediated, tubular-based endosomal sorting. Accordingly, this domain also dimerizes to sense, stabilize and induce membrane curvature. The SNX-BAR proteins that contain both domains are a part of phosphoinositide-enriched, high-curvature tubular micro-domains of the endo-lysosomal network.
SNX8 is also known as Mvp1.
Associated Diseases
- isolated agammaglobulinemia
- hemoglobin E-beta-thalassemia syndrome
- common variable immunodeficiency
- hyper-IgM syndrome type 2
