TGFBR1
LOCUS ID7046
GENE_SYMBOLTGFBR1
GENE NAMEtransforming growth factor beta receptor I
SYNONYMNSAAT5, ALK5, ESS1, LDS1, MSSE, SKR4, ALK-5, LDS1A, LDS2A, TGFR-1, ACVRLK4, tbetaR-I
CHROMOSOME9
HOMOLOGENE ID3177
microRNAsNANA
GENE 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]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. Consistent with these observations, let-7b expression was also reduced in models of both diabetic and non-diabetic renal fibrosis with the upregulation of TGFBR1.24088962