TTC7A Antibody

1. TTC7A deficiency identified in a patient with overlapping features of tricho-hepato-enteric syndrome and multiple intestinal atresia with combined immune deficiency syndrome. PMID: 29174094
2. Studies indicate that mutations in the tetratricopeptide repeat domain 7A (TTC7A) gene cause a severe form of very early onset inflammatory bowel disease PMID: 27418642
3. The results further demonstrate that the skin consequences of TTC7A deficiency in mice and humans are consistent with a role of TTC7A in the balance of keratinocyte maturation, proliferation and cell death processes. PMID: 27059536
4. identified a perfectly segregating homozygous missense mutation in TTC7A in a consanguinous Turkish pedigree causing combined immunodeficiency with mild structural intestinal defects PMID: 25745186
5. Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency PMID: 25174867
6. Identify loss of function mutations in TTC7A in 5 infants with very early onset inflammatory bowel disease. PMID: 24417819
7. TTC7A deficiency results in increased Rho kinase activity, which disrupts polarity, growth, and differentiation of intestinal epithelial cells in multiple intestinal atresia. PMID: 24292712
8. These data strongly suggest that TTC7A gene defects cause combined immunodeficiency with multiple intestinal atresias. PMID: 23830146
9. Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. PMID: 23423984

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HGNC: 19750

OMIM: 243150

KEGG: hsa:57217

STRING: 9606.ENSP00000316699

UniGene: Hs.370603