Disease relevance of SNX3

• Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype [1].

High impact information on SNX3

• We show that SNX3 is associated with the early endosome through a novel motif (PX domain) capable of interaction with phosphatidylinositol-3-phosphate (PtdIns(3)P) [2].
• Overexpression of SNX3 alters endosomal morphology and delays transport to the lysosome [2].
• Domain-swap experiments with SNX3 demonstrate that the PX domain of SNX10 alone is insufficient to generate vacuoles and the downstream C-terminal domain is required for vacuolization [3].
• However, mutation screening by dHPLC and Southern blot analysis of another sporadic case with MMEP failed to detect any point mutations or deletions in the SNX3 coding sequence [1].
• The SDPs were prepared with a Büchi 190 Mini-spray dryer using as drying adjuvants Aerosil 200 alone (SDP1), an Aerosil 200: Gelita-Sol-P (1:1) mixture (SDP2) and an Aerosil 200:Gelita-Sol-P (1:3) mixture (SDP3) [4].

Associations of SNX3 with chemical compounds

• The total flavonoid recovery was around 80%, and it was practically not affected by the SDP1, SDP2, and SDP3 compositions [4].

Analytical, diagnostic and therapeutic context of SNX3

• Transport from the early to the recycling endosome is affected upon microinjection of SNX3 antibodies [2].

References