?:definition
|
-
Human RBCK1 wild-type allele is located in the vicinity of 20p13 and is approximately 25 kb in length. This allele, which encodes RanBP-type and C3HC4-type zinc finger-containing protein 1, plays a role in polyubiquitination. Mutation of the gene is associated with polyglucosan body myopathy 1.
|