PEX7 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PEX7 wild-type allele is located in the vicinity of 6q23.3 and is approximately 91 kb in length. This allele, which encodes peroxisomal targeting signal 2 receptor protein, is involved in the mediation of protein transport into the peroxisome. Mutation of the gene is associated with rhizomelic chondrodysplasia punctata type 1 and peroxisomal biogenesis disorder 9B.

**Synonyms:** - PBD9B - PTS2R - Peroxin 7 Gene - Peroxisomal Biogenesis Factor 7 wt Allele - Peroxisomal PTS2 Receptor Gene - Peroxisome Biogenesis Factor 7 Gene - Peroxisome Targeting Signal 2 Receptor Gene - RCDP1 - RD