Disease-gene associations mined from literature

Literature associating TTC7A and combined immunodeficiency

TTC7A [ENSP00000378320]

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 ...

Linkouts:  STRING  Pharos  UniProt