DISEASES

Disease-gene associations mined from literature

Literature associating PEX16 and rhizomelic chondrodysplasia punctata type 2

PEX16 [ENSP00000241041]

Peroxisomal membrane protein PEX16; Required for peroxisome membrane biogenesis. May play a role in early stages of peroxisome assembly. Can recruit other peroxisomal proteins, such as PEX3 and PMP34, to de novo peroxisomes derived from the endoplasmic reticulum (ER). May function as receptor for PEX3; Belongs to the peroxin-16 family.

Synonyms:  PEX16,  PEX16p,  hPEX16,  E9PLS4,  E9PMM3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM