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

rs886042805 in TTC7A gene and Congenital atresia of colon PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs886042805 in TTC7A gene and Congenital atresia of ileum PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs886042805 in TTC7A gene and Congenital pyloric atresia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs10194115 in TTC7A gene and Erectile dysfunction PMID 20932654 2010 Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.

rs886042805 in TTC7A gene and Jejunal Atresia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs147914967 in TTC7A gene and Multiple gastrointestinal atresias (disorder) 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 24931897 2014 Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency.

PMID 25534311 2015 Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.

PMID 24292712 2014 TTC7A mutations disrupt intestinal epithelial apicobasal polarity.

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 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 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs10194115 in TTC7A gene and Prostate carcinoma PMID 20932654 2010 Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.

rs61571577 in TTC7A gene and Smoking PMID 26053186 2015 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.

rs61571577 in TTC7A gene and Smoking Behaviors PMID 26053186 2015 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.