PEX1

PEX1

A gene on chromosome 7q21.2 that encodes peroxin-1, a protein of the AAA ATPase family, which have various cell functions. This cytoplasmic protein forms heteromeric complexes with the peroxisomal membrane, where it plays a role in peroxisome biogenesis and in importing proteins into peroxisomes.

Molecular pathology
PEX1 mutations are associated with complementation group 1 peroxisomal disorders—e.g., neonatal adrenoleukodystrophy, infantile Refsum disease, Zellweger syndrome.
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We performed PEX1 gene with new generation sequencing for the parents.
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.
1998) Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.
1997) Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.
1997) Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders.
1998) Temperaturesensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders.
2001) Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.