DISEASES

Disease-gene associations mined from literature

Literature associating PIK3R5 and ataxia with oculomotor apraxia type 2

PIK3R5 [ENSP00000392812]

Phosphatidylinositol 4,5-bisphosphate 3-kinase regulatory subunit; Regulatory subunit of the PI3K gamma complex. Required for recruitment of the catalytic subunit to the plasma membrane via interaction with beta-gamma G protein dimers. Required for G protein-mediated activation of PIK3CG (By similarity).

Synonyms:  PIK3R5,  PIK3R5p,  hPIK3R5,  J3KRE9,  J3KSW1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM