SPOP wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SPOP wild-type allele is located in the vicinity of 17q21.33 and is approximately 79 kb in length. This allele, which encodes speckle-type POZ protein, plays a role in the regulation of protein ubiquitination. Mutation of the gene is associated with Nabais Sa-de Vries syndrome, types 1 and 2.

**Synonyms:** - BTBD32 - NEDMACE - NEDMIDF - NSDVS1 - NSDVS2 - Speckle Type BTB/POZ Protein wt Allele - Speckle-Type BTB/POZ Protein Gene - Speckle-Type POZ Protein Gene - TEF2