peroxisome assembly protein 12; peroxin-12; peroxisome assembly factor 3; PAF-3 (PEX12 PAF3)
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Function
- required for protein import into peroxisomes
- interacts with PEX5 & PEX10
- interacts with PEX19 via its cytoplasmic domain
Structure
- belongs to the pex2/pex10/pex12 family
- contains 1 RING-type Zn+2 finger
Compartment
peroxisome membrane; multi-pass membrane protein
Pathology
- defects in PEX12 are the cause of peroxisome biogenesis disorder complementation group 3
- defects in PEX12 are a cause of Zellweger syndrome
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/O00623.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX12
- ↑ dbPEX, PEX gene Database http://www.dbpex.org/home.php?select_db=PEX12
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5193
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5193
- OMIM: https://mirror.omim.org/entry/214100
- OMIM: https://mirror.omim.org/entry/601539
- OMIM: https://mirror.omim.org/entry/601758
- UniProt: http://www.uniprot.org/uniprot/O00623.html