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.