Gene Symbol | TTC7A |
Entrez Gene ID | 57217 |
Full Name | tetratricopeptide repeat domain 7A |
Synonyms | GIDID,MINAT,TTC7 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Jun 2014]. |
Disorder MIM: | |
Disorder Html: | Gastrointestinal defects and immunodeficiency syndrome, 243150 (3) |