Ttc7a gene
WebAug 20, 2024 · While the PI4KIIIα catalytic subunit is encoded by a single gene (PI4KA), the other two complex subunits enabling PI4KIIIα stability are each encoded by two genes generating FAM126A/B and TTC7A/B isoforms; each molecular isoform has largely overlapping cellular function, but different tissue distributions. 3, 6, 14, 23, 24 We … WebChildren with TTC7A deficiency may also have conditions affecting their hair, skin, teeth, nails, and liver function. What causes TTC7A deficiency? TTC7A deficiency is a genetic …
Ttc7a gene
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WebTTC7A. CELL LINE. Human cell lines. GENERAL INFORMATIONi. General description of the gene and the encoded protein (s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project. Gene namei. Official gene symbol, which is typically a short form of the gene name, according to HGNC. WebThe increasing incidence of pediatric inflammatory bowel disease, coupled with the efficiency of whole-exome sequencing, has led to the identification of tetratricopeptide …
WebJun 11, 2013 · Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. Journal of Medical Genetics , 2013; 50 (5): 324 DOI: 10.1136/jmedgenet ... WebJun 7, 2024 · Background Tetratricopeptide repeat domain 7A (TTC7A, chromosome 2p21) is a highly conserved structural motif essential for multiprotein scaffolding and cell survival. Fewer than 60 cases of TTC7A deficiency have been reported globally. It produces multisystemic disease phenotypes which are lethal in two-thirds of patients, with a …
Webmutations in the Tetratricopeptide repeat domain 7 (TTC7A) gene in an infant from non-consanguineous parents with severe exfoliative apoptotic enterocolitis; we also detected TTC7A mutations in 2 unrelated families, each with 2 affected siblings. TTC7A interacts with EFR3 homolog B to regulate phosphati-dylinositol 4-kinase at the plasma membrane. WebWhole-exome sequencing was performed on the patient and healthy family members. The analysis on the patient identified a novel deleterious variant in the gene TTC7A. Sanger sequencing to validate the deleterious variant was performed and revealed a homozygous 4-bp deletion (c.313ΔTATC) in exon 2 of TTC7A .
WebThe entire TTC7A gene could not be interpreted due to variable exon sequence coverage. All 20 TTC7A coding exons and their intron-exon junctions were therefore screened for variations by Sanger sequencing, confirming that the two siblings were both heterozygous for the 4 bp AAGT deletion (figure 1, see online supplementary figure S4).
WebMar 29, 2024 · Clinical resource with information about TTC7A, Gastrointestinal defects and immunodeficiency syndrome 1, Genome-wide association of lipid-lowering response to … dwp motors ltdWebMar 21, 2024 · GeneCards Summary for TTC7B Gene. TTC7B (Tetratricopeptide Repeat Domain 7B) is a Protein Coding gene. Diseases associated with TTC7B include … crystalline entityWebMar 29, 2024 · TTC7A deficiency identified in a patient with overlapping features of tricho-hepato-enteric syndrome and multiple intestinal atresia with combined immune deficiency … crystalline eauWebMar 21, 2024 · GeneCards Summary for TTC7A Gene. TTC7A (Tetratricopeptide Repeat Domain 7A) is a Protein Coding gene. Diseases associated with TTC7A include … crystalline engineeringWebSequence variants and/or copy number variants (deletions/duplications) within the TTC7A gene will be detected with >99% sensitivity. Variants classified as unknown significance (VUS), likely pathogenic, or pathogenic will be reported. Benign and like... crystalline electric fieldWebMultiple intestinal atresia with combined immune deficiency (MIA-CID) is an autosomal recessive syndrome due to mutations in the TTC7A gene implicated in the polarization of … dwp mouWebNov 16, 2024 · Mutations in the tetratricopeptide repeat domain 7A gene (TTC7A) cause intestinal epithelial and immune defects. Patients can become immune deficient and develop apoptotic enterocolitis, multiple intestinal atresia, and recurrent intestinal stenosis. The intestinal disease in patients with TTC7A deficiency is severe and untreatable, and it … crystalline exhaustion krallice