Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene Symbol TGFBR1
Synonyms AAT5 | ACVRLK4 | ALK-5 | ALK5 | ESS1 | LDS1 | LDS1A | LDS2A | MSSE | SKR4 | tbetaR-I | TBR-i | TBRI | TGFR-1
Gene Description TGFBR1, transforming growth factor beta receptor 1, is a membrane bound serine/threonine protein kinase, which acts with Tgfbr2 to form a receptor for transforming growth factor beta (Tgfb), a regulator of cell growth (PMID: 21461994). Tgfbr1 mutations and abnormal expression have been reported in colon and pancreatic cancers (PMID: 20001556), and in breast cancer (PMID: 32103597).


Additional content available in CKB BOOST