Disease-gene associations mined from literature

Literature associating PEX14 and Refsum disease

PEX14 [ENSP00000349016]

Peroxisomal membrane anchor protein PEX14; Peroxisome membrane protein that is an essential component of the peroxisomal import machinery. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PEX5). Plays a key role for peroxisome movement through a direct interaction with tubulin; Peroxins

Synonyms:  PEX14p,  hPEX14,  F5H4J2,  K7EK59,  O75381 ...

Linkouts:  STRING  Pharos  UniProt  OMIM