Gene: PEX6

Alternate names for this Gene: HMLR2|PAF-2|PAF2|PBD4A|PDB4B|PXAAA1

Gene Summary: This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.1

Description of this Gene: peroxisomal biogenesis factor 6

Type of Gene: protein-coding

rs9471987 in PEX6 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs267608247 in PEX6 gene and Dysmorphic features PMID 26387595 2015 Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

PMID 22871920 2012 Genetics and molecular basis of human peroxisome biogenesis disorders.

PMID 26593283 2016 PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.

PMID 15098234 2004 Metabolic and molecular basis of peroxisomal disorders: a review.

PMID 11873320 2002 A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.

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

PMID 8670792 1996 The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.

PMID 17055079 2006 Peroxisome biogenesis disorders.

rs267608216 in PEX6 gene and HEIMLER SYNDROME 2 PMID 19877282 2010 Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.

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

PMID 19142205 2009 Rational diagnostic strategy for Zellweger syndrome spectrum patients.

PMID 25079577 2014 Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy.

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

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 11873320 2002 A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.

rs2274517 in PEX6 gene and Lymphocyte Count measurement PMID 22286170 2012 The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.

rs267608247 in PEX6 gene and Muscle hypotonia PMID 22871920 2012 Genetics and molecular basis of human peroxisome biogenesis disorders.

PMID 17055079 2006 Peroxisome biogenesis disorders.

PMID 8670792 1996 The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.

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

PMID 11873320 2002 A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.

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

PMID 26593283 2016 PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.

PMID 15098234 2004 Metabolic and molecular basis of peroxisomal disorders: a review.

rs1491384052 in PEX6 gene and PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) PMID 8940266 1996 Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans.

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

PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

PMID 26593283 2016 PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.

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

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

PMID 24016303 2013 Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.

PMID 19142205 2009 Rational diagnostic strategy for Zellweger syndrome spectrum patients.

PMID 8670792 1996 The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.

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

PMID 15858711 2005 Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.

PMID 11355018 2001 The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6.

PMID 26700162 2016 Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder.

PMID 25079577 2014 Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy.

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

PMID 26943801 2016 The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders.

PMID 11004248 2000 Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1.

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

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

PMID 10408779 1999 Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders.

PMID 22894767 2012 A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population.

rs1010184002 in PEX6 gene and PEROXISOME BIOGENESIS DISORDER 4B PMID 26275793 2015 Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice.

PMID 8940266 1996 Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans.

PMID 19142205 2009 Rational diagnostic strategy for Zellweger syndrome spectrum patients.

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

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

PMID 15858711 2005 Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.

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

PMID 8670792 1996 The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.

PMID 26700162 2016 Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder.

PMID 11355018 2001 The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6.

PMID 25079577 2014 Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy.

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

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

PMID 24016303 2013 Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.

PMID 10408779 1999 Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders.

PMID 22894767 2012 A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population.

rs1491384052 in PEX6 gene and Peroxisome biogenesis disorders PMID 8940266 1996 Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans.

PMID 19142205 2009 Rational diagnostic strategy for Zellweger syndrome spectrum patients.

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

PMID 24016303 2013 Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.

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

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

PMID 11355018 2001 The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6.

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

PMID 26700162 2016 Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder.

PMID 8670792 1996 The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.

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

PMID 29220678 2017 Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.