Catalog

PEX14 deficiency

No MMS code

Link to WHO Definition

PEX14 deficiency – http://id.who.int/icd/entity/1699637272

This refers to the deficiency in the protein that in humans is encoded by the PEX14 gene. This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal.