| umls-concept:C2700100 | skos:definition | NCI: Human UBE3A wild-type allele is located within 15q11-q13 and is approximately 102 kb in length. This allele, which encodes ubiquitin-protein ligase E3A, plays a role in protein turnover by targeting substrate proteins for degradation. Mutations in this gene are associated with Angelman syndrome. | lld:umls |
