Gene: PEX10

Alternate names for this Gene: NALD|PBD6A|PBD6B|RNF69

Gene Summary: This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.32

Description of this Gene: peroxisomal biogenesis factor 10

Type of Gene: protein-coding

rs1325771720 in PEX10 gene and PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) PMID 7565793 1995 Formation of the peroxisome lumen is abolished by loss of Pichia pastoris Pas7p, a zinc-binding integral membrane protein of the peroxisome.

PMID 10862081 2000 Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.

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

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

PMID 9683594 1998 Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.

PMID 20695019 2010 Mutations in PEX10 are a cause of autosomal recessive ataxia.

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

PMID 17702006 2007 Zellweger syndrome resulting from maternal isodisomy of chromosome 1.

PMID 17041890 2006 Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.

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

PMID 9700193 1998 Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.

PMID 12794690 2003 Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation.

rs1325771720 in PEX10 gene and PEROXISOME BIOGENESIS DISORDER 6B PMID 7565793 1995 Formation of the peroxisome lumen is abolished by loss of Pichia pastoris Pas7p, a zinc-binding integral membrane protein of the peroxisome.

PMID 10862081 2000 Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.

PMID 9683594 1998 Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.

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

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

PMID 20695019 2010 Mutations in PEX10 are a cause of autosomal recessive ataxia.

PMID 17702006 2007 Zellweger syndrome resulting from maternal isodisomy of chromosome 1.

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

PMID 17041890 2006 Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.

PMID 12794690 2003 Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation.

rs267608183 in PEX10 gene and Peroxisome Biogenesis Disorder, Complementation Group 7 PMID 10862081 2000 Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.

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

PMID 9683594 1998 Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.

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

PMID 20695019 2010 Mutations in PEX10 are a cause of autosomal recessive ataxia.

PMID 17041890 2006 Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.

PMID 9700193 1998 Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.

PMID 12794690 2003 Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation.

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

rs61750435 in PEX10 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 17702006 2007 Zellweger syndrome resulting from maternal isodisomy of chromosome 1.

PMID 10862081 2000 Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.

PMID 12794690 2003 Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation.