PEX12

From Wikipedia, the free encyclopedia
Jump to: navigation, search
PEX12
Identifiers
Aliases PEX12, PAF-3, PBD3A, peroxisomal biogenesis factor 12
External IDs MGI: 2144177 HomoloGene: 240 GeneCards: 5193
RNA expression pattern
PBB GE PEX12 205094 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000286

NM_134025

RefSeq (protein)

NP_000277.1

NP_598786.1

Location (UCSC) Chr 17: 35.57 – 35.58 Mb Chr 11: 83.29 – 83.3 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Peroxisome assembly protein 12 is a protein that in humans is encoded by the PEX12 gene.[3][4]

Function[edit]

PEX12 is needed for protein import into peroxisomes.[5] 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).[4]

Interactions[edit]

PEX12 has been shown to interact with PEX10,[6][7] PEX5[6][7] and PEX19.[8][9]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ a b "Entrez Gene: PEX12 peroxisomal biogenesis factor 12". 
  5. ^ 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 109016free to read. PMID 9632816. 
  6. ^ 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 2156163free to read. PMID 10562279. 
  7. ^ 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. 
  8. ^ 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 2174547free to read. PMID 10704444. 
  9. ^ 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 87101free to read. PMID 11390669. 

Further reading[edit]

External links[edit]