DISEASES

Disease-gene associations mined from literature

Literature associating PEX7 and infantile Refsum disease

PEX7 [ENSP00000315680]

Peroxisomal targeting signal 2 receptor; Binds to the N-terminal PTS2-type peroxisomal targeting signal and plays an essential role in peroxisomal protein import; Belongs to the WD repeat peroxin-7 family.

Synonyms:  PEX7,  PEX7p,  hPEX7,  C0H5X6,  O00628 ...

Linkouts:  STRING  Pharos  UniProt  OMIM