Tetratricopeptide repeat domain 7A (TTC7A)

Tetratricopeptide repeat domain 7A (TTC7A) is a critical nuclear scaffolding protein composed of nine tetratricopeptide repeat (TPR) domains that facilitate protein-protein interactions and the assembly of multi-protein complexes essential for cellular homeostasis. TTC7A binds chromatin, primarily at actively transcribed genes, and its loss leads to widespread epigenomic disruption, genome instability, reduced cell viability, and defective epithelial and lymphocyte function. TTC7A is particularly important for the differentiation and maintenance of intestinal and thymic epithelia. Biallelic loss-of-function mutations in TTC7A are associated with a spectrum of severe early-onset diseases, including multiple intestinal atresia, combined immunodeficiencies, and extensive enteropathy. Beyond its nuclear role, TTC7A also participates in cytoskeletal organization, protein trafficking, and the regulation of hematopoietic stem cell response to stress. To date, there are no direct drug therapies targeting TTC7A; mutations are approached through disease management based on genotype and phenotype correlations.

Other names

Tetratricopeptide repeat domain 7ATTC7ATetratricopeptide repeat protein 7ATPR repeat protein 7AKIAA1140TTC7MINATGIDID

Not applicable; no known drugs specifically modulate TTC7A. TTC7A dysfunction is currently addressed by supportive management in genetic disease settings