Large HERCs function as tumor suppressors
Ubiquitin ligases regulate numerous cellular processes, including tissue homeostasis, cellular metabolism, and cell cycle progression. These enzymes recognize, interact with and ubiquitylate specific substrates. Homologous to the E6-AP carboxyl terminus (HECT) and regulator of chromosome condensatio...
| Autores: | , , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2019 |
| País: | España |
| Institución: | Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
| Repositorio: | Recercat. Dipósit de la Recerca de Catalunya |
| OAI Identifier: | oai:recercat.cat:2445/172166 |
| Acceso en línea: | https://hdl.handle.net/2445/172166 |
| Access Level: | acceso abierto |
| Palabra clave: | Tumors Proteïnes supressores de tumors Genètica Tumor suppressor protein Genetics |
| Sumario: | Ubiquitin ligases regulate numerous cellular processes, including tissue homeostasis, cellular metabolism, and cell cycle progression. These enzymes recognize, interact with and ubiquitylate specific substrates. Homologous to the E6-AP carboxyl terminus (HECT) and regulator of chromosome condensation 1 (RCC1)-like domain-containing proteins (HERCs) belong to the family of HECT ubiquitin ligases. There are six human HERCs which can be divided into two subgroups: large HERCs (HERC1-2) and small HERCs (HERC3-6). Alterations in the function of large HERCs are associated with serious pathologies such as neurological disorders. Mutations in human HERC1 have been associated with overgrowth, intellectual disability and some autistic features; while mutations in HERC2 have been identified as the cause of a neurodevelopmental disorder with similarities to Angelman syndrome and autism. |
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