HECW2


Description

The HECW2 (HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2) is a protein-coding gene located on chromosome 2.

HECW2 is a protein encoded by the HECW2 gene in humans. Mutations in HECW2 have been linked to epilepsy and intellectual disability. These mutations affect one copy of the HECW2 gene and are thought to alter the function of the HECW2 protein.

HECW2 is an E3 ubiquitin ligase that promotes the ubiquitination of TP73, leading to its stabilization and enhanced transcriptional activation. Additionally, HECW2 plays a role in regulating the transition between mitotic metaphase and anaphase.

HECW2 is also known as NDHSAL, NEDL2.

Associated Diseases



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