Identity
HGNC
LOCATION
2p21
LOCUSID
ALIAS
GIDID,MINAT,TTC7
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 57217
MIM: 609332
HGNC: 19750
Ensembl: ENSG00000068724
Variants:
dbSNP: 57217
ClinVar: 57217
TCGA: ENSG00000068724
COSMIC: TTC7A
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37390900 | 2023 | Actin dynamics regulation by TTC7A/PI4KIIIα limits DNA damage and cell death under confinement. | 2 |
| 37390900 | 2023 | Actin dynamics regulation by TTC7A/PI4KIIIα limits DNA damage and cell death under confinement. | 2 |
| 34985046 | 2022 | Pediatric Gastrointestinal Histopathology in Patients With Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency, and Congenital Enteropathy. | 5 |
| 34985046 | 2022 | Pediatric Gastrointestinal Histopathology in Patients With Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency, and Congenital Enteropathy. | 5 |
| 34975848 | 2021 | A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency. | 7 |
| 34975848 | 2021 | A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency. | 7 |
| 31814065 | 2020 | TTC7A Variants Previously Described to Cause Enteropathy Are Observed on a Single Haplotype and Appear Non-pathogenic in Pediatric Inflammatory Bowel Disease Patients. | 1 |
| 33122718 | 2020 | The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease. | 5 |
| 31814065 | 2020 | TTC7A Variants Previously Described to Cause Enteropathy Are Observed on a Single Haplotype and Appear Non-pathogenic in Pediatric Inflammatory Bowel Disease Patients. | 1 |
| 33122718 | 2020 | The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease. | 5 |
| 29174094 | 2018 | Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease. | 8 |
| 30350797 | 2018 | A Novel TTC7A Deficiency Presenting With Combined Immunodeficiency and Chronic Gastrointestinal Problems. | 2 |
| 29174094 | 2018 | Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease. | 8 |
| 30350797 | 2018 | A Novel TTC7A Deficiency Presenting With Combined Immunodeficiency and Chronic Gastrointestinal Problems. | 2 |
| 27059536 | 2016 | Ichthyosis as the dermatological phenotype associated with TTC7A mutations. | 9 |
Citation
Dessen P
TTC7A (tetratricopeptide repeat domain 7A)
Atlas Genet Cytogenet Oncol Haematol. 2017-10-01
Online version: http://atlasgeneticsoncology.org/gene/57080/ttc7a-(tetratricopeptide-repeat-domain-7a)
