Gene: TTC7A
Alternate names for this Gene: GIDID|MINAT|TTC7
Gene Summary: 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.
Gene is located in Chromosome: 2
Location in Chromosome : 2p21
Description of this Gene: tetratricopeptide repeat domain 7A
Type of Gene: protein-coding
Gene: STPG4
Alternate names for this Gene: C2orf61|GSE
Gene Summary:
Gene is located in Chromosome: 2
Location in Chromosome : 2p21
Description of this Gene: sperm-tail PG-rich repeat containing 4
Type of Gene: protein-coding
rs139010200 in
TTC7A;STPG4 gene and
Multiple gastrointestinal atresias (disorder)
PMID 24292712 2014 TTC7A mutations disrupt intestinal epithelial apicobasal polarity.
PMID 24931897 2014 Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency.
PMID 25546680 2014 Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort.
PMID 25745186 2015 Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects.
PMID 23423984 2013 Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.
PMID 24417819 2014 Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.
PMID 23830146 2013 Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.
PMID 25534311 2015 Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.