DISEASES

Disease-gene associations mined from literature

Literature associating PEX19 and lens disease

PEX19 [ENSP00000357051]

Peroxisomal biogenesis factor 19; Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53; Belongs to the peroxin-19 family.

Synonyms:  PEX19,  PEX19p,  hPEX19,  B7Z6I5,  B7Z8B3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM