PEX10

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Peroxisomal biogenesis factor 10
Identifiers
Symbols PEX10 ; NALD; PBD6A; PBD6B; RNF69
External IDs OMIM602859 MGI2684988 HomoloGene5671 GeneCards: PEX10 Gene
RNA expression pattern
PBB GE PEX10 206351 s at tn.png
PBB GE PEX10 206352 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 5192 668173
Ensembl ENSG00000157911 ENSMUSG00000029047
UniProt O60683 B1AUE5
RefSeq (mRNA) NM_002617 NM_001042407
RefSeq (protein) NP_002608 NP_001035866
Location (UCSC) Chr 1:
2.34 – 2.35 Mb
Chr 4:
155.07 – 155.07 Mb
PubMed search [1] [2]

Peroxisome biogenesis factor 10 is a protein that in humans is encoded by the PEX10 gene.[1][2] Alternative splicing results in two transcript variants encoding different isoforms.

Function[edit]

Peroxisome biogenesis factor 10 is involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane.[2]

Clinical significance[edit]

Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome.[2]

Interactions[edit]

PEX10 has been shown to interact with PEX12[3][4] and PEX19.[5][6]

References[edit]

  1. ^ Warren DS, Morrell JC, Moser HW, Valle D, Gould SJ (December 1998). "Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders". Am J Hum Genet 63 (2): 347–59. doi:10.1086/301963. PMC 1377304. PMID 9683594. 
  2. ^ a b c "Entrez Gene: PEX10 peroxisome biogenesis factor 10". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ 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. 
  6. ^ 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]