Aliases for TTC7B Gene
External Ids for TTC7B Gene
Previous HGNC Symbols for TTC7B Gene
Previous GeneCards Identifiers for TTC7B Gene
GeneCards Summary for TTC7B Gene
TTC7B (Tetratricopeptide Repeat Domain 7B) is a Protein Coding gene. Diseases associated with TTC7B include Hypomyelinating Leukoencephalopathy and Gastrointestinal Defects And Immunodeficiency Syndrome. An important paralog of this gene is TTC7A.
UniProtKB/Swiss-Prot Summary for TTC7B Gene
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. In the complex, plays a central role in bridging PI4KA to EFR3B and FAM126A, via direct interactions (PubMed:26571211).