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TGFBR1 - transforming growth factor beta receptor 1
- Synonym(s) : activin A receptor type II-like kinase, 53kDa, ACVRLK4, ALK5, ALK-5, TBRI, TBR-i
- Previous symbols and names : ESS1, MSSE, multiple self-healing squamous epithelioma, transforming growth factor beta receptor I
- Type : gene with protein product
- Chromosomal location : 9q22.33
- OMIM: 190181
- HGNC: 11772
- UniProtKB: P36897
- Genatlas: TGFBR1
- GenCC: TGFBR1
- Ensembl: ENSG00000106799
- IUPHAR-DB: 1788
- Reactome: P36897
- LOVD: TGFBR1
Diseases list
- Disease-causing germline mutation(s) in Familial thoracic aortic aneurysm and aortic dissection
ORPHA:91387 
- Disease-causing germline mutation(s) in Loeys-Dietz syndrome
ORPHA:60030 - Disease-causing germline mutation(s) (loss of function) in Multiple self-healing squamous epithelioma
ORPHA:65748
: AssessedAdditional information
Patient-centred resources for this gene
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