DISEASES

Disease-gene associations mined from literature

Literature associating EFR3A and primary ciliary dyskinesia 1

EFR3A [ENSP00000254624]

EFR3 homolog A (S. cerevisiae); Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, EFR3A probably acts as the membrane-anchoring component. Also involved in responsiveness to G-protein-coupled receptors; it is however unclear whether this role is direct or indirect.

Synonyms:  EFR3A,  EFR3Ap,  hEFR3A,  B4DZ89,  E5RJS1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM