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] (NCBI Entrez Gene Database, 7046)
Similar Terms
Downloads & Tools
Genes
13 genes co-occuring with the biological term tgfbr1 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.