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Gene Review

UBE3B  -  ubiquitin protein ligase E3B

Homo sapiens

Synonyms: Ubiquitin-protein ligase E3B
 
 
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High impact information on UBE3B

  • 1. Alternative splicing of exon 20 of UBE3B generated two major transcripts [1].
  • We characterized full-length cDNAs for human and mouse UBE3B, a novel HECT-domain E3 ligase, and analyzed the structure of human UBE3B on chromosome 12q24 [1].
  • Several known genes including ATP2A2, UBE3B, and VR-OAC that map in the 12q22-q24.1 region are included in the deletion [2].

References

  1. Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing. Gong, T.W., Huang, L., Warner, S.J., Lomax, M.I. Genomics (2003) [Pubmed]
  2. Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus. Petek, E., Windpassinger, C., Mach, M., Rauter, L., Scherer, S.W., Wagner, K., Kroisel, P.M. Am. J. Med. Genet. A (2003) [Pubmed]
 
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