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.
Hettema, "Deficiency of the exportomer components Pex1, Pex6, and Pex15 causes enhanced pexophagy in Saccharomyces cerevisiae," Autophagy, vol.
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.
(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.
Complementation groups (CGs) and PEX genes of peroxisome deficiencies Gene CG PBD CHO mutants US/EU Japan PEX1 1 E ZS, NALD *, IRD * Z24, ZP107 PEX2 10 F ZS, IRD * Z65 PEX3 12 G ZS ZPG208 PEX5 2 ZS, NALD ZP105 *, ZP139 PEX6 4(6) C ZS, NALD * ZP92 PEX7 11 R RCDP ZPG207 PEX10 7(5) B ZS, NALD PEX11[beta] 16 ZS PEX12 3 ZS, NALD, IRD ZP109 PEX13 13 H ZS, NALD * ZP128 PEX14 15 K ZS ZP110 PEX16 9 D ZS PEX19 14 J ZS ZP119 PEX26 8 A ZS, NALD *, IRD * ZP124, ZP167 ZP114 Gene Ps-memb.
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.
(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.
Several genes involved in neuronal differentiation and migration (e.g., Pafah1b2, Stmb2, Actb, Sdrf1, Pex1) were highly enriched with these TREs, thereby suggesting that these regulatory regions may be important targets by which MAM disrupts cerebellar development.