DISEASES

Disease-gene associations mined from literature

Literature associating PI4KA and cerebellar hypoplasia

PI4KA [ENSP00000255882]

Phosphatidylinositol 4-kinase, catalytic, alpha; Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol- 1,4,5,-trisphosphate; Belongs to the PI3/PI4-kinase family. Type III PI4K subfamily.

Synonyms:  PI4KA,  PI4KAp,  hPI4KA,  A8MTF1,  C9JLI1 ...

Linkouts:  STRING  Pharos  UniProt