PXMP3
MIM.170993
PEX2
PXMP3 encodes an integral peroxisomal membrane protein (PEX2) required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Alternative splicing results in multiple transcript variants encoding the same protein.
Pathology
Mutations in PXMP3 result in one form of Zellweger disease and infantile Refsum disease.
See also
peroxysomal diseases