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Src and Pyk2 mediate G-protein-coupled receptor activation of epidermal growth factor receptor (EGFR) but are not required for coupling to the mitogen-activated protein (MAP) kinase signaling cascade.
Andreev J, Galisteo ML, Kranenburg O, Logan SK, Chiu ES, Okigaki M, Cary LA, Moolenaar WH, Schlessinger J. Andreev J, et al. J Biol Chem. 2001 Jun 8;276(23):20130-5. doi: 10.1074/jbc.M102307200. Epub 2001 Mar 27. J Biol Chem. 2001. PMID: 11274221 Free article.
Src kinase activity is essential for osteoclast function.
Miyazaki T, Sanjay A, Neff L, Tanaka S, Horne WC, Baron R. Miyazaki T, et al. J Biol Chem. 2004 Apr 23;279(17):17660-6. doi: 10.1074/jbc.M311032200. Epub 2004 Jan 22. J Biol Chem. 2004. PMID: 14739300 Free article.
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.
Jabara HH, Boyden SE, Chou J, Ramesh N, Massaad MJ, Benson H, Bainter W, Fraulino D, Rahimov F, Sieff C, Liu ZJ, Alshemmari SH, Al-Ramadi BK, Al-Dhekri H, Arnaout R, Abu-Shukair M, Vatsayan A, Silver E, Ahuja S, Davies EG, Sola-Visner M, Ohsumi TK, Andrews NC, Notarangelo LD, Fleming MD, Al-Herz W, Kunkel LM, Geha RS. Jabara HH, et al. Nat Genet. 2016 Jan;48(1):74-8. doi: 10.1038/ng.3465. Epub 2015 Dec 7. Nat Genet. 2016. PMID: 26642240 Free PMC article.