TTC7A gene

tetratricopeptide repeat domain 7A

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Multiple gastrointestinal atresias

From UniProt:

Gastrointestinal defects and immunodeficiency syndrome (GIDID): A rare, severe congenital disorder in which obstructions occur at various levels throughout the small and large intestines, ultimately leading to organ failure. Surgical interventions are palliative but do not provide long-term survival. Severe immunodeficiency may be associated with the phenotype. [MIM:243150]

Cytogenetic Location: 2p21, which is the short (p) arm of chromosome 2 at position 21

Molecular Location: base pairs 46,915,931 to 47,076,136 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2p21, which is the short (p) arm of chromosome 2 at position 21
  • GIDID
  • MINAT
  • TTC7