SNX27
Description
The SNX27 (sorting nexin 27) is a protein-coding gene located on chromosome 1.
SNX27, or Sorting nexin family member 27, is a human gene encoding a protein involved in endocytosis and protein trafficking. Like other members of the sorting nexin family, it contains a phosphoinositide binding domain (PX domain). SNX27's function is analogous to a similar protein in mice, which is responsible for recruiting an isoform of the serotonin 5-hydroxytryptamine 4 receptor into early endosomes.
SNX27 plays a crucial role in the retrograde transport pathway, which involves the recycling of internalized transmembrane proteins from endosomes back to the plasma membrane. It specifically targets and sorts a subset of these proteins that have a PDZ-binding motif at their C-terminus. SNX27 facilitates this process by interacting with the retromer complex, preventing the targeted proteins from entering the lysosomal degradation pathway and promoting their recycling through retromer-tubule-mediated transport. SNX27 also interacts with the WASH complex and binds to membranes containing phosphatidylinositol-3-phosphate (PtdIns(3P)). Additionally, SNX27 may contribute to the establishment of natural killer cell polarity and recruits CYTIP to early endosomes.
SNX27 is also known as MRT1, MY014.
Associated Diseases
- Dravet syndrome
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- primary familial polycythemia due to EPO receptor mutation
- alpha thalassemia-intellectual disability syndrome type 1
- alpha-thalassemia-myelodysplastic syndrome
- hemoglobin E-beta-thalassemia syndrome
- delta-beta-thalassemia
- hemoglobin D disease
- hemolytic anemia due to adenylate kinase deficiency
- hemolytic anemia due to diphosphoglycerate mutase deficiency
