Disease-gene associations mined from literature

Literature associating PIK3R4 and centronuclear myopathy X-linked

PIK3R4 [ENSP00000349205]

Phosphoinositide-3-kinase, regulatory subunit 4; Regulatory 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 cytokinesis, probably in the context of PI3KC3-C2; Armadillo-like helical domain containing

Synonyms:  PIK3R4,  PIK3R4p,  hPIK3R4,  D6RAC3,  D6RBB7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM