PEX12

PEX12

A gene on chromosome 17q12 that encodes a member of the protein family involved in importing peroxisomal matrix proteins, which localises to the peroxisomal membrane.  
Molecular pathology PEX12 mutations cause peroxisome biogenesis spectrum disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome.
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Gene ID Symbol Official full name 8409 UXT Ubiquitously expressed prefoldin-like chaperone 150684 COMMD1 Copper metabolism domain-containing 1 1278 COL1A2 Collagen type I alpha 2 2335 FN1 Fibronectin 1 4522 MTHFD1 Methylenetetrahydrofolate dehydrogenase 1 5193 PEX12 Peroxisomal biogenesis factor 12 57231 SNX14 Sorting nexin 14 10572 SIVA1 SIVA1 apoptosis-inducing factor 10742 RAI2 Retinoic acid-induced 2 22902 RUFY3 RUN and FYVE domain-containing 3 10456 HAX1 HCLS1-associated protein X-1 3492 IGH Immunoglobulin heavy locus
A more practical approach, i.e., a transient expression assay skipping the revertant selection by P12/UV, (39) was also developed for further isolation of PEX cDNAs including nine others, PEX1, PEX3, PEX5, PEX6, PEX12, PEX13, PEX14, PEX19, and PEX26 (21), (34), (40)-(48) (Table 3; Fig.
An alternative strategy, i.e., the homology search by screening the expressed sequence tag database using yeast PEX genes, successfully made it feasible to isolate human orthologue genes responsible for PBDs: (22), (24), (34) PEX1, (55), (56) PEX3, (57) PEX5, (58) PEX6, (59) PEX7, (60)-(62) PEX10, (63),(64) PEX12, (65) PEX13, (66) PEX14, (67) and PEX16.
(1997) PEX12 encodes an integral membrane protein of peroxisomes.
(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.
(1997) Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders.
(2009) Pex2 and Pex12 function as proteinubiquitin ligases in peroxisomal protein import.