This gene encodes a member of the Ser/Thr protein kinase family and the TGFB receptor subfamily.
The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta.
This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation.
Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors.
Alternatively spliced transcript variants encoding different isoforms have been characterized.
Applications:Suitable for use in Western Blot, Immunohistochemistry and ELISA.