機能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.
関連疾患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.
配列類似性Belongs to the sorting nexin family. Contains 1 PX (phox homology) domain.
ドメインThe PX domain mediates specific binding to phosphatidylinositol-3-phosphate (PtdIns(P3)).
翻訳後修飾Ubiquitinated, leading to its proteasomal degradation. Deubiquitinated by USP10.