DISEASES

Disease-gene associations mined from literature

Literature associating PEX5 and rhizomelic chondrodysplasia punctata type 5

PEX5 [ENSP00000391601]

Peroxisomal C-terminal targeting signal import receptor; Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import.

Synonyms:  PEX5,  PEX5p,  hPEX5,  B4DWW0,  B4E0T2 ...

Linkouts:  STRING  Pharos  UniProt