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]
- Activation of MAPKK activity
- Skeletal system development
- Angiogenesis
- In utero embryonic development
- Kidney development
- Multiple self-healing squamous epithelioma
- Loeys-dietz syndrome 1
- Loeys-dietz syndrome
- Familial keratoacanthoma
- Familial thoracic aortic aneurysm and aortic dissection
Gene Location
