Literature associating TTC7A and severe combined immunodeficiency
Tetratricopeptide repeat protein 7A; 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, plays a central role in bridging PI4KA to EFR3B and FAM126A, via direct interactions (By similarity).
Synonyms: TTC7A, TTC7Ap, hTTC7A, F5H4E1, G5E9G4 ...