DISEASES

Disease-gene associations mined from literature

Literature associating PI4K2A and ochronosis

PI4K2A [ENSP00000359665]

Phosphatidylinositol 4-kinase type II-alpha; Membrane-bound phosphatidylinositol-4 kinase (PI4- kinase) that catalyzes the phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P), a lipid that plays important roles in endocytosis, Golgi function, protein sorting and membrane trafficking and is required for prolonged survival of neurons. Besides, phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P) is the first committed step in the generation of phosphatidylinositol 4,5-bisphosphate (PIP2), a precursor of the second messenger inositol 1,4,5-trisphosphate (InsP3); Belongs to the PI3/PI4-kinase family. Type II PI4K subfamily.

Synonyms:  PI4K2A,  PI4K2Ap,  hPI4K2A,  Q9BTU6,  Q9BTU6p ...

Linkouts:  STRING  Pharos  UniProt