2026-04-14T02:45:01Zhttps://recercat.cat/oai/request

oai:recercat.cat:2445/1721662025-12-05T09:22:35Zcom_2072_1057col_2072_478799col_2072_478916col_2072_478917

00925njm 22002777a 4500 dc Schneider, Taiane author Martinez-Martinez, Arturo author Cubillos Rojas, Mónica author Bartrons Bach, Ramon author Ventura Pujol, Francesc author Rosa López, José Luis author 2020-11-18T07:58:55Z 2020-11-18T07:58:55Z 2019-06-18 2020-11-18T07:58:56Z 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. Tumors Proteïnes supressores de tumors Genètica Tumors Tumor suppressor protein Genetics Large HERCs function as tumor suppressors