Alternative names: |
ubiquitin ligase E3 alpha-II, OTTHUMP00000039768, OTTHUMP00000039767, OTTHUMP00000016405, OTTHUMP00000016403, dJ392M17.3, dJ242G1.1, bA49A4.1, RP3-392M17.3, MGC71112, KIAA0349, DKFZp686C08114, C6orf133, ubiquitin protein ligase E3 component n-recognin 2, UBR2 |
References: |
1. Zenker M, Mayerle J, Lerch MM, Tagariello A, Zerres K, Durie PR, Beier M, Hu?lskamp G, Guzman C, Rehder H, Beemer FA, Hamel B, Vanlieferinghen P, Gershoni-Baruch R, Vieira MW, Dumic M, Auslender R, Gil-da-Silva-Lopes VL, Steinlicht S, Rauh M, Shalev SA, Thiel C, Ekici AB, Winterpacht A, Kwon YT, Varshavsky A, Reis A. Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nature genetics 2005 Dec 37 (12): 1345-50. |