TGFBR1
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]
See also
References
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.
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