PEX5 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PEX5 wild-type allele is located in the vicinity of 12p13.31 and is approximately 30 kb in length. This allele, which encodes peroxisomal targeting signal 1 receptor protein, is involved in peroxisomal protein import. Mutation of the gene is associated with type 5 rhizomelic chondrodysplasia punctata and peroxisome biogenesis disorder types 2A and 2B.

**Synonyms:** - PBD2A - PBD2B - PTS1-BP - PTS1R - PXR1 - Peroxin 5 Gene - Peroxisomal Biogenesis Factor 5 wt Allele - Peroxisomal Import Receptor 5 Gene - Peroxisomal Targeting Signal 1 (SKL Type) Receptor Gene - Peroxisomal Targeting Signal Import Receptor Gene - Peroxisomal Targeting Signal Receptor 1 Gene - Peroxisome Biogenesis Factor 5 Gene - RCDP5