PEX6 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PEX6 wild-type allele is located in the vicinity of 6p21.1 and is approximately 15 kb in length. This allele, which encodes peroxisomal ATPase PEX6 protein, plays a role in the regulation of peroxisome biogenesis. Mutations in the gene are associated with Heimler syndrome 2 and peroxisome biogenesis disorder types 4A and 4B.

**Synonyms:** - HMLR2 - PAF-2 - PAF2 - PBD4A - PDB4B - PXAAA1 - Peroxin 6 Gene - Peroxisomal AAA-Type ATPase 1 Gene - Peroxisomal Biogenesis Factor 6 wt Allele - Peroxisome Biogenesis Factor 6 Gene