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Protein-coding gene in humans
Peroxisome assembly protein 12 is a protein that in humans is encoded by the PEX12 gene .[ 5] [ 6]
PEX12 is needed for protein import into peroxisomes.[ 7] Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes.
Clinical significance [ edit ] The peroxisome biogenesis disorders (PBDs; MIM 601539) are a group of genetically heterogeneous diseases that are usually lethal in early infancy. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. This cellular phenotype is shared by yeast 'pex' mutants, and human orthologs of yeast PEX genes defective in some PBD complementation groups (CGs).[ 6]
PEX12 has been shown to interact with PEX10 ,[ 8] [ 9] PEX5 [ 8] [ 9] PEX19 .[ 10] [ 11]
^ a b c GRCh38: Ensembl release 89: ENSG00000108733 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000018733 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Chang CC, Lee WH, Moser H, Valle D, Gould SJ (April 1997). "Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders". Nat Genet . 15 (4): 385–8. doi :10.1038/ng0497-385 . PMID 9090384 . S2CID 20825062 . ^ a b "Entrez Gene: PEX12 peroxisomal biogenesis factor 12" .^ Okumoto K, Shimozawa N, Kawai A, Tamura S, Tsukamoto T, Osumi T, Moser H, Wanders RJ, Suzuki Y, Kondo N, Fujiki Y (July 1998). "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 (7): 4324–36. doi :10.1128/MCB.18.7.4324 . PMC 109016 PMID 9632816 . ^ a b Chang CC, Warren DS, Sacksteder KA, Gould SJ (November 1999). "PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import" . J. Cell Biol . 147 (4): 761–74. doi :10.1083/jcb.147.4.761 . PMC 2156163 PMID 10562279 . ^ a b Okumoto K, Abe I, Fujiki Y (August 2000). "Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p" . J. Biol. Chem . 275 (33): 25700–10. doi :10.1074/jbc.M003303200 PMID 10837480 . ^ Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ (March 2000). "PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis" . J. Cell Biol . 148 (5): 931–44. doi :10.1083/jcb.148.5.931 . PMC 2174547 PMID 10704444 . ^ Fransen M, Wylin T, Brees C, Mannaerts GP, Van Veldhoven PP (July 2001). "Human pex19p binds peroxisomal integral membrane proteins at regions distinct from their sorting sequences" . Mol. Cell. Biol . 21 (13): 4413–24. doi :10.1128/MCB.21.13.4413-4424.2001 . PMC 87101 PMID 11390669 .
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