TGFBR1 transforming growth factor beta receptor 1
Gene ID: 7046, updated on 14-Nov-2024Gene type: protein coding
Also known as: AAT5; ALK5; ESS1; LDS1; MSSE; SKR4; TBRI; ALK-5; LDS1A; LDS2A; TBR-i; TGFR-1; ACVRLK4; tbetaR-I
Summary
The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
Associated conditions
| Description | Tests |
|---|---|
| Familial thoracic aortic aneurysm and aortic dissection MedGen: C4707243GeneReviews: Heritable Thoracic Aortic Disease Overview | not available |
| Genetics of callous-unemotional behavior in children. GeneReviews: Not available | |
| Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women. GeneReviews: Not available | |
| GWAS of dental caries patterns in the permanent dentition. GeneReviews: Not available | |
| Loeys-Dietz syndrome 1 | not available |
| Multiple self-healing squamous epithelioma | not available |
| Seven new loci associated with age-related macular degeneration. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2024-02-13) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2024-02-13) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 9q22.33
- Sequence:
- Chromosome: 9; NC_000009.12 (99103647..99154192)
- Total number of exons:
- 19
Variation
| Resource | Links for this gene |
|---|---|
| SNP | Variation Viewer for TGFBR1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
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