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Overview
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The protein has a predicted molecular mass of 36.3 kDa after removal of the signal peptide. The apparent molecular mass of hFc-TGFBR1 is approximately 40-53 kDa due to glycosylation. 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.
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- Properties
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Overview