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.
A chromosomal aberration involving SNX3 may be a cause of microphthalmia syndromic type 8 (MCOPS8) [MIM:601349]. Translocation t(6;13)(q21;q12). Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS8 is a very rare congenital syndrome characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported.
Belongs to the sorting nexin family. Contains 1 PX (phox homology) domain.
The PX domain mediates specific binding to phosphatidylinositol-3-phosphate (PtdIns(P3)).
Ubiquitinated, leading to its proteasomal degradation. Deubiquitinated by USP10.