Disease-gene associations mined from literature

Literature associating PEX13 and rhizomelic chondrodysplasia punctata type 2

PEX13 [ENSP00000295030]

Peroxisomal membrane protein PEX13; Component of the peroxisomal translocation machinery with PEX14 and PEX17. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PAS10/PEX5). Involved in the import of PTS1 and PTS2 proteins; Peroxins

Synonyms:  PEX13,  PEX13p,  hPEX13,  B5MBY9,  D3YTD3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM