[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], AND INVOLVEMENT IN PBD-CG3.
TISSUE=Fetal brain;
DOI=10.1038/ng0497-385; PubMed=9090384 [NCBI, ExPASy, EBI, Israel, Japan]
Chang C.-C.,
Lee W.-H.,
Moser H.,
Valle D.,
Gould S.J.;
"Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders.";
Nat. Genet. 15:385-388(1997).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, AND CHARACTERIZATION OF VARIANT NALD PHE-320.
PubMed=9632816 [NCBI, ExPASy, EBI, Israel, Japan]
Okumoto K.,
Shimozawa N.,
Kawai A.,
Tamura S.,
Tsukamoto T.,
Osumi T.,
Moser H.,
Wanders R.J.A.,
Suzuki Y.,
Kondo N.,
Fujiki Y.;
"PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p.";
Mol. Cell. Biol. 18:4324-4336(1998).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Testis;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[4]
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INTERACTION WITH PEX5 AND PEX10.
DOI=10.1083/jcb.147.4.761; PubMed=10562279 [NCBI, ExPASy, EBI, Israel, Japan]
Chang C.C.,
Warren D.S.,
Sacksteder K.A.,
Gould S.J.;
"PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import.";
J. Cell Biol. 147:761-774(1999).
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[5]
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INTERACTION WITH PEX19.
DOI=10.1083/jcb.148.5.931; PubMed=10704444 [NCBI, ExPASy, EBI, Israel, Japan]
Sacksteder K.A.,
Jones J.M.,
South S.T.,
Li X.,
Liu Y.,
Gould S.J.;
"PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis.";
J. Cell Biol. 148:931-944(2000).
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[6]
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INTERACTION WITH PEX19, AND MUTAGENESIS OF CYS-304 AND CYS-307.
DOI=10.1128/MCB.21.13.4413-4424.2001; PubMed=11390669 [NCBI, ExPASy, EBI, Israel, Japan]
Fransen M.,
Wylin T.,
Brees C.,
Mannaerts G.P.,
Van Veldhoven P.P.;
"Human pex19p binds peroxisomal integral membrane proteins at regions distinct from their sorting sequences.";
Mol. Cell. Biol. 21:4413-4424(2001).
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- FUNCTION: Required for protein import into peroxisomes.
- SUBUNIT: Interacts with PEX5 and PEX10. Interacts with PEX19 via its cytoplasmic domain.
- INTERACTION:
P40855:PEX19; NbExp=1; IntAct=EBI-594836, EBI-594747;
P50542:PEX5; NbExp=2; IntAct=EBI-594836, EBI-597835;
- SUBCELLULAR LOCATION: Peroxisome membrane; Multi-pass membrane protein.
- DISEASE: Defects in PEX12 are the cause of peroxisome biogenesis disorder complementation group 3 (PBD-CG3) [MIM:601758]. PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum. The PBD group is genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies.
- DISEASE: Defects in PEX12 are a cause of Zellweger syndrome (ZWS) [MIM:214100]. ZWS is a fatal peroxisome biogenesis disorder characterized by dysmorphic facial features, hepatomegaly, ocular abnormalities, renal cysts, hearing impairment, profound psychomotor retardation, severe hypotonia and neonatal seizures. Death occurs within the first year of life.
- SIMILARITY: Belongs to the pex2/pex10/pex12 family.
- SIMILARITY: Contains 1 RING-type zinc finger.
- WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=PEX12";.
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