DISEASES

Disease-gene associations mined from literature

Literature associating PIK3C3 and centronuclear myopathy X-linked

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. Involved in the transport of lysosomal enzyme precursors to lysosomes. Required for transport from early to late endosomes (By similarity); Phosphatidylinositol 3-kinase subunits

Synonyms:  PIK3C3,  PIK3C3p,  hPIK3C3,  A8MYT4,  K7EKH3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM