Synonyms:AAT5, ACVRLK4, ALK-5, ALK5, ENTREZ:7046, ESS1, HGNC:11772, LDS1, LDS1A, LDS2A, MIM:190181, MSSE, NM_001130916, NM_001306210, NM_004612, NP_001124388, NP_001293139, NP_004603, SKR4, TBR-i, TBRI, TGFBR1, TGFR-1, XM_011518948, XM_011518949, XM_011518950, XM_017015063, XM_024447658, XP_011517250, XP_011517251, XP_011517252, XP_016870552, XP_024303426, tbetaR-I, transforming growth factor beta receptor 1
Omim:OMIM:190181
Id:20149cf3-789f-5980-b9e3-88ff32f899b4
Hgnc:HGNC:11772
Description:transforming growth factor beta receptor 1
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]