PEX12
| PEX12 | |||
|---|---|---|---|
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Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 17: 35.57 – 35.58 Mb | Chr 11: 83.19 – 83.19 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Peroxisome assembly protein 12 is a protein that in humans is encoded by the PEX12 gene.[5][6]
Function
PEX12 is needed for protein import into peroxisomes.[7] This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes.
Clinical significance
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]
Interactions
PEX12 has been shown to
References
- ^ 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.
- S2CID 20825062.
- ^ a b "Entrez Gene: PEX12 peroxisomal biogenesis factor 12".
- PMID 9632816.
- ^ PMID 10562279.
- ^ PMID 10837480.
- PMID 10704444.
- PMID 11390669.
Further reading
- Okumoto K, Fujiki Y (1997). "PEX12 encodes an integral membrane protein of peroxisomes". Nat. Genet. 17 (3): 265–6. S2CID 30206958.
- Schrader M, Reuber BE, Morrell JC, et al. (1998). "Expression of PEX11beta mediates peroxisome proliferation in the absence of extracellular stimuli". J. Biol. Chem. 273 (45): 29607–14. PMID 9792670.
- Chang CC, Gould SJ (1998). "Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders". Am. J. Hum. Genet. 63 (5): 1294–306. PMID 9792857.
- South ST, Gould SJ (1999). "Peroxisome Synthesis in the Absence of Preexisting Peroxisomes". J. Cell Biol. 144 (2): 255–66. PMID 9922452.
- Chang CC, Warren DS, Sacksteder KA, Gould SJ (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. PMID 10562279.
- Sacksteder KA, Jones JM, South ST, et al. (2000). "Pex19 Binds Multiple Peroxisomal Membrane Proteins, Is Predominantly Cytoplasmic, and Is Required for Peroxisome Membrane Synthesis". J. Cell Biol. 148 (5): 931–44. PMID 10704444.
- Okumoto K, Abe I, Fujiki Y (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. PMID 10837480.
- Fransen M, Wylin T, Brees C, et al. (2001). "Human Pex19p Binds Peroxisomal Integral Membrane Proteins at Regions Distinct from Their Sorting Sequences". Mol. Cell. Biol. 21 (13): 4413–24. PMID 11390669.
- Fransen M, Brees C, Ghys K, et al. (2002). "Analysis of mammalian peroxin interactions using a non-transcription-based bacterial two-hybrid assay". Mol. Cell. Proteomics. 1 (3): 243–52. PMID 12096124.
- Harper CC, Berg JM, Gould SJ (2003). "PEX5 binds the PTS1 independently of Hsp70 and the peroxin PEX12". J. Biol. Chem. 278 (10): 7897–901. PMID 12456682.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMID 12477932.
- Gootjes J, Schmohl F, Waterham HR, Wanders RJ (2004). "Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder". Eur. J. Hum. Genet. 12 (2): 115–20. PMID 14571262.
- Gootjes J, Schmohl F, Mooijer PA, et al. (2004). "Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism". Hum. Mutat. 24 (2): 130–9. S2CID 17284974.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. PMID 15489334.
- Mano S, Nakamori C, Nito K, et al. (2007). "The Arabidopsis pex12 and pex13 mutants are defective in both PTS1- and PTS2-dependent protein transport to peroxisomes". Plant J. 47 (4): 604–18. PMID 16813573.
- Zeharia A, Ebberink MS, Wanders RJ, et al. (2007). "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". J. Hum. Genet. 52 (7): 599–606. PMID 17534573.
External links
- GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
- OMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
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