Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
TGFBR1
Introduction
Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa), also known as TGFBR1, is a human gene.
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).[1]
References
References
Further reading
Further reading
- Massagué J (1992). “Receptors for the TGF-beta family”. Cell. 69 (7): 1067–70. PMID 1319842.
- Wrana JL (1998). “TGF-beta receptors and signalling mechanisms”. Mineral and electrolyte metabolism. 24 (2–3): 120–30. PMID 9525694.
- Josso N, di Clemente N, Gouédard L (2001). “Anti-Müllerian hormone and its receptors”. Mol. Cell. Endocrinol. 179 (1–2): 25–32. PMID 11420127.