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peroxisome assembly protein 12; peroxin-12; peroxisome assembly factor 3; PAF-3 (PEX12 PAF3)
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
General
peroxisomal membrane protein (peroxin)
Properties
SIZE: entity length = 359 aa
MW = 41 kD
COMPARTMENT: peroxisome
MOTIF: cytoplasmic domain {1-158}
transmembrane domain {159-179}
Peroxisomal matrix {180-239}
MOTIF: exoplasmic loop {180-239}
transmembrane domain {240-260}
cytoplasmic domain {261-359}
MOTIF: proline-rich region
SITE: 280-285
MOTIF: proline residue (SEVERAL)
RING-finger {304-343}
EFFECTOR-BOUND: Zn+2
FOR-BINDING-OF: DNA motif
Database Correlations
OMIM correlations
MORBIDMAP 601758
UniProt O00623
Pfam PF04757
Entrez Gene 5193
Kegg hsa:5193
References
- UniProt :accession O00623
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX12
- dbPEX, PEX gene Database
http://www.dbpex.org/home.php?select_db=PEX12