PQBP1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PQBP1 wild-type allele is located in the vicinity of Xp11.23 and is approximately 13 kb in length. This allele, which encodes polyglutamine-binding protein 1, plays a role in protein-protein interactions associated with pre-mRNA splicing, transcriptional activation, innate immunity and neuronal development. Mutations in the gene are associated with Renpenning syndrome 1 and other syndromes with X-linked cognitive disability.

**Synonyms:** - MRX2 - MRX55 - MRXS3 - MRXS8 - Mental Retardation, X-Linked 2 (Non-Dysmorphic) Gene - Mental Retardation, X-Linked 55 Gene - NPW38 - Nuclear Protein Containing a WW Domain, 38-kD Gene - Polyglutamine Binding Protein 1 wt Allele - RENS1 - SHS - Sutherland-Haan X-Linked Mental Retardation Syndrome Gene