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Transferrin receptor 1 is a cellular receptor for human heme-albumin.
Jennifer B, Berg V, Modak M, Puck A, Seyerl-Jiresch M, Künig S, Zlabinger GJ, Steinberger P, Chou J, Geha RS, Öhler L, Yachie A, Choe H, Kraller M, Stockinger H, Stöckl J. Jennifer B, et al. Among authors: geha rs. Commun Biol. 2020 Oct 27;3(1):621. doi: 10.1038/s42003-020-01294-5. Commun Biol. 2020. PMID: 33110194 Free PMC 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. Among authors: geha rs. 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.
627 results