TTC7A tetratricopeptide repeat domain 7A
Gene ID: 57217, updated on 2-Nov-2024Gene type: protein coding
Also known as: TTC7; GIDID; MINAT
- See all available tests in GTR for this gene
- Go to complete Gene record for TTC7A
- Go to Variation Viewer for TTC7A variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Gastrointestinal defects and immunodeficiency syndrome 1 | See labs |
| Genome-wide association of lipid-lowering response to statins in combined study populations. GeneReviews: Not available | |
| 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. GeneReviews: Not available |
Genomic context
- Location:
- 2p21
- Sequence:
- Chromosome: 2; NC_000002.12 (46915866..47076123)
- Total number of exons:
- 32
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TTC7A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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