Aliases for TTC7A Gene
External Ids for TTC7A Gene
Previous HGNC Symbols for TTC7A Gene
Previous GeneCards Identifiers for TTC7A Gene
This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
GeneCards Summary for TTC7A Gene
TTC7A (Tetratricopeptide Repeat Domain 7A) is a Protein Coding gene. Diseases associated with TTC7A include Gastrointestinal Defects And Immunodeficiency Syndrome and Intestinal Atresia. An important paralog of this gene is TTC7B.
UniProtKB/Swiss-Prot for TTC7A Gene
Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:23229899, PubMed:24417819). 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).