C223611Level 6
UBE3C wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human UBE3C wild-type allele is located in the vicinity of 7q36.3 and is approximately 130 kb in length. This allele, which encodes ubiquitin-protein ligase E3C protein, plays a role in polyubiquitination. Mutations in the gene are associated with neurodevelopmental disorder with absent speech and movement and behavioral abnormalities.
**Synonyms:** - HECTH2 - KIAA0010 - KIAA10 - NDSMBA - NEDSMBA - RAUL - Ubiquitin Protein Ligase E3C wt Allele - Ubiquitin-Protein Isopeptide Ligase (E3) Gene
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Cross-system equivalences0
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