Gene: PEX2

Alternate names for this Gene: PAF1|PBD5A|PBD5B|PMP3|PMP35|PXMP3|RNF72|ZWS3

Gene Summary: This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein.

Gene is located in Chromosome: 8

Location in Chromosome : 8q21.13

Description of this Gene: peroxisomal biogenesis factor 2

Type of Gene: protein-coding

rs267608188 in PEX2 gene and PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) PMID 17041890 2006 Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.

PMID 21465523 2011 Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.

PMID 9452066 1998 A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome.

PMID 14630978 2004 Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.

PMID 23430938 2012 Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations.

PMID 7681622 1993 Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect.

PMID 15542397 2004 The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.

PMID 9585609 1998 Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders.

PMID 1546315 1992 A human gene responsible for Zellweger syndrome that affects peroxisome assembly.

PMID 10528859 1999 Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.

PMID 21031596 2011 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

rs267608188 in PEX2 gene and PEROXISOME BIOGENESIS DISORDER 5B PMID 17041890 2006 Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.

PMID 10528859 1999 Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.

PMID 14630978 2004 Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.

PMID 15542397 2004 The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.

PMID 1546315 1992 A human gene responsible for Zellweger syndrome that affects peroxisome assembly.

PMID 21465523 2011 Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.

PMID 9452066 1998 A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome.

PMID 21031596 2011 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

rs61752122 in PEX2 gene and Peroxisome biogenesis disorders PMID 21031596 2011 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

PMID 14630978 2004 Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.

PMID 28089346 2017 Detection of unusual very-long-chain fatty acid and ether lipid derivatives in the fibroblasts and plasma of patients with peroxisomal diseases using liquid chromatography-mass spectrometry.

PMID 21465523 2011 Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.

PMID 23430938 2012 Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations.

PMID 9585609 1998 Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders.

PMID 23829372 2014 Carrier frequency of two BBS2 mutations in the Ashkenazi population.

PMID 15542397 2004 The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.

PMID 10528859 1999 Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.