Disease-gene associations mined from literature

Literature associating PEX1 and Refsum disease

PEX1 [ENSP00000248633]

Peroxisome biogenesis disorder protein 1; Required for stability of PEX5 and protein import into the peroxisome matrix. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes.

Synonyms:  PEX1,  PEX1p,  hPEX1,  B4DER6,  E9PE75 ...

Linkouts:  STRING  Pharos  UniProt  OMIM