RCBTB1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human RCBTB1 wild-type allele is located in the vicinity of 13q14.2 and is approximately 54 kb in length. This allele, which encodes RCC1 and BTB domain-containing protein 1, may be involved in the transcriptional regulation of cell cycle genes through chromatin remodeling. Mutations in the gene are associated with retinal dystrophy with or without extraocular anomalies. This gene is located in a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid malignancies.

**Synonyms:** - CLL Deletion Region Gene 7 - CLLD7 - CLLL7 - Chronic Lymphocytic Leukemia Deletion Region Gene 7 - E4.5 - FLJ10716 - GDP/GTP Exchange Factor (GEF)-Like Protein Gene - GDP/GTP Exchange Factor-Like Protein Gene - GLP - RCC1 and BTB Domain Containing Protein 1 wt Allele - RDEOA - Regulator of Chromosome Condensation (RCC1) and BTB (POZ) Domain Containing Protein 1 Gene