Catalog

PEX1 deficiency

No MMS code

Link to WHO Definition

PEX1 deficiency – http://id.who.int/icd/entity/116242730

This refers to a deficiency in the protein that is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis.