2yps
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Crystal structure of the PX domain of human sorting nexin 3
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Structural highlights
DiseaseSNX3_HUMAN MMEP syndrome. The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving SNX3 has been found in patients with syndromic microphthalmia. Translocation t(6;13)(q21;q12). FunctionSNX3_HUMAN Phosphoinositide-binding protein required for multivesicular body formation. Specifically binds phosphatidylinositol 3-phosphate (PtdIns(P3)). Plays a role in protein transport between cellular compartments. Promotes stability and cell surface expression of epithelial sodium channel (ENAC) subunits SCNN1A and SCNN1G (By similarity). Not involved in EGFR degradation.[1] [2] See AlsoReferences
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This page was last modified 13:39, 30 August 2023.