RBCK1 wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - C20orf18 - Chromosome 20 Open Reading Frame 18 Gene - HOIL-1 - HOIL1 - HOIL1L - PBMEI - PGBM1 - RANBP2-Type and C3HC4-Type Zinc Finger Containing 1 wt Allele - RBCK2 - RanBP-Type and C3HC4-Type Zinc Finger Containing 1 Gene - UBCE7IP3 - XAP3 - XAP4 - ZRANB4