DISEASES

Disease-gene associations mined from literature

Literature on PIK3C3

PIK3C3 [ENSP00000262039]

Phosphatidylinositol 3-kinase catalytic subunit type 3; Catalytic subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and required for the abcission step in cytokinesis, probably in the context of PI3KC3-C2 (PubMed:20643123, PubMed:20208530). Involved in the transport of lysosomal enzyme precursors to lysosomes. Required for transport from early to late endosomes (By similarity). ECO:0000269|PubMed:14617358, ECO:0000269|PubMed:20208530,

Synonyms:  PIK3C3,  PIK3C3p,  hPIK3C3,  A0A0B4J2B1,  A0A1W2PS05 ...

Linkouts:  STRING  Pharos  UniProt  OMIM