peroxin-6; peroxisome assembly factor 2; PAF-2; peroxisomal-type ATPase 1; peroxisomal biogenesis factor 6 (PEX6, PXAAA1)
Jump to navigation
Jump to search
Function
- role in peroxisome biosynthesis
- required for stability of the PTS1 receptor
- anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes
- required for the import of proteins into peroxisomes
- interacts directly with PEX26 & PEX1
- mediates the indirect interaction between PEX1 & PEX26
Structure
belongs to the AAA ATPase family
Compartment
- cytoplasm, peroxisome membrane
- associated with peroxisomal membranes
Pathology
- defects in PEX6 are the cause of peroxisome biogenesis disorder complementation group 4
- defects in PEX6 are a cause of Zellweger syndrome
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q13608.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX6
- ↑ dbPEX, PEX gene Database http://www.dbpex.org/home.php?select_db=PEX6
Database
- UniProt: http://www.uniprot.org/uniprot/Q13608.html
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5190
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5190
- OMIM: https://mirror.omim.org/entry/214100
- OMIM: https://mirror.omim.org/entry/601498
- OMIM: https://mirror.omim.org/entry/601539