Gene: PEX1

Alternate names for this Gene: HMLR1|PBD1A|PBD1B|ZWS|ZWS1

Gene Summary: This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 7

Location in Chromosome : 7q21.2

Description of this Gene: peroxisomal biogenesis factor 1

Type of Gene: protein-coding

rs370483961 in PEX1 gene and HEIMLER SYNDROME 1 PMID 26387595 2015 Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

PMID 27302843 2016 Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

PMID 28468868 2017 Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.

PMID 12402331 2002 Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.

PMID 26643206 2016 Low bone mineral density is a common feature of Zellweger spectrum disorders.

PMID 20952722 2010 Germinal matrix hemorrhage in Zellweger syndrome.

PMID 26287655 2016 Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.

PMID 10447258 1999 Identification of a common PEX1 mutation in Zellweger syndrome.

PMID 27872819 2016 Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.

PMID 27882258 2016 Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations.

PMID 9398847 1997 Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.

PMID 25412400 2015 Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

PMID 27090541 2016 Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections.

PMID 26219880 2016 Friedreich Ataxia in Classical Galactosaemia.

rs121434455 in PEX1 gene and Infantile Refsum Disease (disorder) PMID 11439091 2001 Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.

PMID 9398847 1997 Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.

PMID 16088892 2005 Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms.

PMID 9539740 1998 Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.

PMID 19105186 2009 Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

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

PMID 21844578 2011 Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence.

PMID 12402331 2002 Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.

PMID 26287655 2016 Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.

PMID 20952722 2010 Germinal matrix hemorrhage in Zellweger syndrome.

PMID 28468868 2017 Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.

PMID 10447258 1999 Identification of a common PEX1 mutation in Zellweger syndrome.

PMID 26643206 2016 Low bone mineral density is a common feature of Zellweger spectrum disorders.

PMID 26387595 2015 Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

PMID 27090541 2016 Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections.

PMID 27872819 2016 Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.

PMID 25412400 2015 Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

PMID 26219880 2016 Friedreich Ataxia in Classical Galactosaemia.

PMID 27882258 2016 Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations.

PMID 11439091 2001 Pex1p from IRD such as Pex1p with the most frequently identified mutation at G843D was largely degraded in vivo at 37 degrees C, whereas a normal level of Pex1p was detectable at the permissive temperature.

rs121434455 in PEX1 gene and PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) PMID 9539740 1998 Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.

PMID 9398848 1997 Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders.

PMID 11439091 2001 Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.

PMID 9398847 1997 Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.

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

PMID 19105186 2009 Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

PMID 26594346 2015 Repository of mutations from Oman: The entry point to a national mutation database.

PMID 21846392 2011 Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.

PMID 27090541 2016 Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 21844578 2011 Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence.

PMID 16088892 2005 Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms.

PMID 26643206 2016 Low bone mineral density is a common feature of Zellweger spectrum disorders.

PMID 26287655 2016 Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.

PMID 26387595 2015 Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

PMID 15098231 2004 Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.

PMID 20952722 2010 Germinal matrix hemorrhage in Zellweger syndrome.

PMID 10447258 1999 Identification of a common PEX1 mutation in Zellweger syndrome.

PMID 16141001 2005 Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations.

PMID 12402331 2002 Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.

PMID 28468868 2017 Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.

PMID 16086329 2005 PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.

PMID 27882258 2016 Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations.

PMID 10384394 1999 Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype.

PMID 24503136 2014 The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder.

PMID 11389485 2001 Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.

PMID 27872819 2016 Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.

PMID 25412400 2015 Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

PMID 26219880 2016 Friedreich Ataxia in Classical Galactosaemia.

PMID 23247051 2013 Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing.

rs149806989 in PEX1 gene and Peroxisome biogenesis disorders PMID 19105186 2009 Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

PMID 19877282 2010 Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.

PMID 12032265 2002 PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease.

PMID 21846392 2011 Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.

PMID 9398847 1997 Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.

PMID 10447258 1999 Identification of a common PEX1 mutation in Zellweger syndrome.

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

PMID 26643206 2016 Low bone mineral density is a common feature of Zellweger spectrum disorders.