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Peroxisomal biogenesis factor 12

PEX12, Pex12p
This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. 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. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008] (from NCBI)
Top mentioned proteins: PEX10, PEX2, Pex13p, CAN, ACID
Papers on PEX12
A novel mutation in the PEX12 gene causing a peroxisomal biogenesis disorder.
Böhmer et al., Bratislava, Slovakia. In Mol Biol Rep, Sep 2015
We reported that the patient was a compound heterozygote for mutations in the gene PEX12: a 2-bp insertion (c.767_768dupAT) and a 2-bp deletion (c.887_888delTC).
Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities.
Hacia et al., Los Angeles, United States. In Stem Cell Res Ther, 2014
METHODS: Primary skin fibroblasts from seven PBD-ZSD patients with biallelic PEX1, PEX10, PEX12, or PEX26 mutations and three healthy donors were transduced with retroviral vectors expressing Yamanaka reprogramming factors.
Peroxisomal ubiquitin-protein ligases peroxin2 and peroxin10 have distinct but synergistic roles in matrix protein import and peroxin5 retrotranslocation in Arabidopsis.
Bartel et al., Houston, United States. In Plant Physiol, 2014
In yeast (Saccharomyces cerevisiae), PEX2, PEX10, and a third ligase, PEX12, ubiquitinate a peroxisome matrix protein receptor, PEX5, allowing the PEX1 and PEX6 ATP-hydrolyzing enzymes to retrotranslocate PEX5 out of the membrane after cargo delivery.
Distinct modes of ubiquitination of peroxisome-targeting signal type 1 (PTS1) receptor Pex5p regulate PTS1 protein import.
Fujiki et al., Fukuoka, Japan. In J Biol Chem, 2014
The E3 activity of Pex10p is essential for its peroxisome-restoring activity, being enhanced by another RING peroxin, Pex12p.
Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
Auer-Grumbach et al., Vienna, Austria. In J Neurol, 2014
Moreover, there was evidence that particular mutations in PEX12, a gene known to cause Zellweger syndrome, could also lead to an IPN phenotype.
Distinct ubiquitination cascades act on the peroxisomal targeting signal type 2 co-receptor Pex18p.
Platta et al., Bochum, Germany. In Traffic, 2013
Monoubiquitination of Pex18p depends on the E2 enzyme Pex4p (Ubc10p), which functions in concert with the E3 enzymes Pex12p and Pex10p.
The cytosolic domain of Pex22p stimulates the Pex4p-dependent ubiquitination of the PTS1-receptor.
Platta et al., Bochum, Germany. In Plos One, 2013
Thus, while the membrane-bound portion Pex22(N)p is not required when Pex4p is fused to Pex3(N)p, the soluble Pex22(C)p is essential for peroxisomal biogenesis and efficient monoubiquitination of the import receptor Pex5p by the E3-ligase Pex12p in vivo and in vitro.
Arabidopsis RING peroxins are E3 ubiquitin ligases that interact with two homologous ubiquitin receptor proteins(F).
Hu et al., East Lansing, United States. In J Integr Plant Biol, 2013
PEX2, PEX10, and PEX12 are three RING-finger-domain-containing integral membrane peroxins crucial for protein import.
Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.
Waterham et al., Amsterdam, Netherlands. In Orphanet J Rare Dis, 2012
We have studied if the function of mutant PEX1, PEX6 and PEX12 can be improved by promoting protein folding using the chemical chaperone arginine.
The RING-type ubiquitin ligases Pex2p, Pex10p and Pex12p form a heteromeric complex that displays enhanced activity in an ubiquitin conjugating enzyme-selective manner.
Erdmann et al., Bochum, Germany. In Febs J, 2012
The RING finger peroxins Pex2p, Pex10p and Pex12p are central components of the peroxisomal matrix protein import machinery.
Different functions of the C3HC4 zinc RING finger peroxins PEX10, PEX2, and PEX12 in peroxisome formation and matrix protein import.
Gietl et al., Freising, Germany. In Proc Natl Acad Sci U S A, 2010
Data show that formation of glyoxysomal reticulum seemed to be impaired in PEX10-DeltaZn but not in PEX2-DeltaZn-T7 or PEX12-DeltaZn-T7 plants.
Pex2 and pex12 function as protein-ubiquitin ligases in peroxisomal protein import.
Erdmann et al., Bochum, Germany. In Mol Cell Biol, 2009
Pex2 mediates the Ubc4-dependent polyubiquitination whereas Pex12 facilitates the Pex4-dependent monoubiquitination of Pex5.
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
Hacia et al., Los Angeles, United States. In Hum Mutat, 2009
the relative fraction of disease-causing alleles that occur in the coding and splice junction sequences of PEX12 gene.
A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.
Korman et al., Tel Aviv-Yafo, Israel. In J Hum Genet, 2006
Highly probable candidate gene for direct sequencing in the context of a peroxisomal biogenesis disorder with a mild clinical phenotype, mosaicism and minimally abnormal peroxisomal parameters in fibroblasts.
The Arabidopsis pex12 and pex13 mutants are defective in both PTS1- and PTS2-dependent protein transport to peroxisomes.
Nishimura et al., Okazaki, Japan. In Plant J, 2006
APM2/PEX13 and APM4/PEX12 have roles in both PTS1- and PTS2-dependent protein transport on the peroxisomal membrane. [APM4] [PEX12]
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
Moser et al., Seattle, United States. In Unknown Journal, 2004
Mutations in twelve different PEX genes (PEX1, PXMP3 [PEX2], PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, and PEX26) — those that encode peroxins, the proteins required for normal peroxisome assembly — have been identified in PBD, ZSS.
Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.
Kondo et al., Gifu, Japan. In J Inherit Metab Dis, 2001
PEX1 and PEX6 encode ABC protein, and PEX10 and PEX12 also encode integral membrane protein, with RING finger.
Peroxisome biogenesis and peroxisome biogenesis disorders.
Fujiki, Fukuoka, Japan. In Febs Lett, 2000
Pex5p carrying the cargos, PTS1 and PTS2, docks with the initial site Pex14p in a putative import machinery, subsequently translocating to other components such as Pex13p, Pex2p, Pex10p and Pex12p, whereby the matrix proteins are imported.
Peroxisome biogenesis and molecular defects in peroxisome assembly disorders.
Tamura et al., Fukuoka, Japan. In Cell Biochem Biophys, 1999
We likewise isolated PEX12 encoding a peroxisomal integral membrane protein in the RING family, by functional complementation of ZP109, demonstrating PEX12 to be responsible for CG-III PBD.
Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders.
Gould et al., Baltimore, United States. In Nat Genet, 1997
Although its sequence similarity to yeast Pex12 proteins was limited, PEX12 shared the same subcellular distribution as yeast Pex12p and localized to the peroxisome membrane.
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