Enzyme Structure (IMAGE)
Caption
Panel a: This is a cartoon "ribbon" diagram of the structure of Rumi in complex with the donor substrate UDP-Glucose (UDP-Glc, shown in cyan) and acceptor substrate hFA9 EGF (dark green). The spheres represent mutations to Rumi that have been found in human diseases including cancers and Dowling-Degos disease (DDD). Panel b: Disease-related Rumi mutations abolish the enzyme's activity relative to the "wild type" (WT) unmutated enzyme, likely leading to compromised Notch signaling and pathogenesis.
Credit
Brookhaven National Laboratory
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