PEX12

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Peroxisomal biogenesis factor 12
Identifiers
Symbols PEX12 ; PAF-3; PBD3A
External IDs OMIM601758 MGI2144177 HomoloGene240 GeneCards: PEX12 Gene
RNA expression pattern
PBB GE PEX12 205094 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 5193 103737
Ensembl ENSG00000108733 ENSMUSG00000018733
UniProt O00623 Q8VC48
RefSeq (mRNA) NM_000286 NM_134025
RefSeq (protein) NP_000277 NP_598786
Location (UCSC) Chr 17:
33.9 – 33.91 Mb
Chr 11:
83.29 – 83.3 Mb
PubMed search [1] [2]

Peroxisome assembly protein 12 is a protein that in humans is encoded by the PEX12 gene.[1][2]

Function[edit]

PEX12 is needed for protein import into peroxisomes.[3] This gene belongs to the peroxin-12 family. 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).[2]

Interactions[edit]

PEX12 has been shown to interact with PEX10,[4][5] PEX5[4][5] and PEX19.[6][7]

References[edit]

  1. ^ 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. 
  2. ^ a b "Entrez Gene: PEX12 peroxisomal biogenesis factor 12". 
  3. ^ 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. PMC 109016. PMID 9632816. 
  4. ^ 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. 
  5. ^ 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. 
  6. ^ 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. 
  7. ^ 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. 

Further reading[edit]

External links[edit]