FAMIN Is a Multifunctional Purine Enzyme Enabling the Purine Nucleotide Cycle

Publication: Cell

M. Zaeem Cader, Rodrigo Pereira de Almeida Rodrigues, James A. West, Gavin W. Sewell, Muhammad N. Md-Ibrahim, Stephanie Reikine, Giuseppe Sirago, Lukas W. Unger, Ana Belén Iglesias-Romero, Katharina Ramshorn, Lea-Maxie Haag, Svetlana Saveljeva, Jana-Fabienne Ebel, Philip Rosenstiel, Nicole C. Kaneider, James C. Lee, Trevor D. Lawley, Allan Bradley, Gordon Dougan, Yorgo Modis, Julian L. Griffin, Arthur Kaser

23 January 2020


Summary

Mutations in FAMIN cause arthritis and inflammatory bowel disease in early childhood, and a common genetic variant increases the risk for Crohn’s disease and leprosy. Researchers developed an unbiased liquid chromatography-mass spectrometry screen for enzymatic activity of this orphan protein.

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