Entity Details
| Primary name |
TTC7A_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q9ULT0 |
| EntryName | TTC7A_HUMAN |
| FullName | Tetratricopeptide repeat protein 7A |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 858 |
| SequenceStatus | complete |
| DateCreated | 2001-06-01 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cell membrane |
| Cytoplasm |
Domains
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| Domain | Name | Category | Type |
| IPR011990 | Tetratricopeptide-like helical domain superfamily | Family | Homologous superfamily |
| IPR019734 | Tetratricopeptide repeat | Repeat | Repeat |
| IPR026900 | Tetratricopeptide repeat protein 7A | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 243150 | OMIM | Gastrointestinal defects and immunodeficiency syndrome (GIDID) | A rare, severe congenital disorder in which obstructions occur at various levels throughout the small and large intestines, ultimately leading to organ failure. Surgical interventions are palliative but do not provide long-term survival. Severe immunodeficiency may be associated with the phenotype. The disease is caused by variants affecting the gene represented in this entry. Phenotypic variations have been observed: the mildest case show intestinal aberrations consisting of bloody diarrhea, apoptotic enterocolitis, and acute graft-versus-host disease- (GVHD)-like symptoms, but no atresias (PubMed:25546680). Other patients show multiple intestinal atresias, some being associated with immunodeficiency syndrome, while other do not show immunodeficiency defects (PubMed:23423984). |
Interactions
0 interactions
| Interactor | Partner | Sources | Publications | Link |