TGFBR1 Chromosome 9
Transforming growth factor beta receptor 1
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What This Gene Does
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]
Gene Info
Gene Group
Type 1 receptor serine/threonine kinases
Locus Type
gene with protein product
Location
9q22.33
Ensembl
ENSG00000106799
Associated Conditions (16)
Familial thoracic aortic aneurysm and aortic dissection
Multiple self-healing squamous epithelioma
Loeys-Dietz syndrome
Loeys-Dietz syndrome 1
Ehlers-Danlos syndrome
TGFBR1-related disorder
Cardiovascular phenotype
See cases
classic type
Isolated thoracic aortic aneurysm
Acute myeloid leukemia
Sarcoma
Thoracic aortic aneurysm or dissection
Disproportionate tall stature
Familial aortopathy
Marfan syndrome
Key Variants
RS1007933061
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1021523079
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1060502040
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Multiple self-healing squamous epithelioma, Loeys-Dietz syndrome
Health Risk
RS1064796037
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS111513627
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, TGFBR1-related disorder
Health Risk
RS1131691342
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS113605875
Conflicting classifications of pathogenicity
Loeys-Dietz syndrome 1, Cardiovascular phenotype, Loeys-Dietz syndrome 1
Health Risk
RS113786548
Conflicting classifications of pathogenicity
Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1
Health Risk
RS11466445
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, TGFBR1-related disorder, Multiple self-healing squamous epithelioma
Health Risk
RS1184553647
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1198082830
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1319771049
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
All Variants (158)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS886038954 | Health Risk | Pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1060502045 | Health Risk | Pathogenic/Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1060502046 | Health Risk | Pathogenic/Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial aortopathy, Familial thoracic aortic aneurysm and aortic dissection |
| RS111426349 | Health Risk | Pathogenic/Likely pathogenic | Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome |
| RS111854391 | Health Risk | Pathogenic/Likely pathogenic | Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS760079636 | Health Risk | Pathogenic/Likely pathogenic | Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1 |
| RS886038919 | Health Risk | Pathogenic/Likely pathogenic | Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS886039176 | Health Risk | Pathogenic/Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |