SNX33
Description
The SNX33 (sorting nexin 33) is a protein-coding gene located on chromosome 15.
SNX33 plays a crucial role in reorganizing the cell's internal framework (cytoskeleton), controlling the uptake of molecules into cells (endocytosis), and managing the transport of cellular packages (vesicles). It achieves this by interacting with cell membranes, WASL, DNM1, and DNM2. SNX33 is active throughout the cell cycle, from the normal growth phase (interphase) to the final stages of cell division (mitosis). It is essential for efficient cell division and the formation of the cleavage furrow, which divides the dividing cell into two daughter cells. SNX33 also regulates the uptake of specific proteins (APP and PRNP) from the cell surface, influencing the release of their breakdown products. Studies have shown that SNX33 can promote the formation of tube-like structures from cell membranes and may contribute to the formation of large, fluid-filled vesicles (macropinosomes).
SNX33 is also known as SH3PX3, SH3PXD3C, SNX30.
Associated Diseases
- Griscelli syndrome type 3
- uncombable hair syndrome
- oculocutaneous albinism type 3
- microcephaly-albinism-digital anomalies syndrome
- Tietz syndrome
- ermine phenotype
- hypotrichosis simplex
- Waardenburg syndrome, IIa 2F
- Clouston syndrome
- Waardenburg syndrome type 2A
