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.
References in periodicals archive ?
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.
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.