Gene: PEX12

Alternate names for this Gene: PAF-3|PBD3A

Gene Summary: This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS).

Gene is located in Chromosome: 17

Location in Chromosome : 17q12

Description of this Gene: peroxisomal biogenesis factor 12

Type of Gene: protein-coding

rs144259891 in PEX12 gene and PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) PMID 9632816 1998 PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p.

PMID 9792857 1998 Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.

PMID 9090384 1997 Isolation of the human PEX12 gene, mutated in group 3 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 19105186 2009 Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

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

PMID 14571262 2004 Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.

PMID 27763634 2017 Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing.

PMID 22471590 2012 The RING-type ubiquitin ligases Pex2p, Pex10p and Pex12p form a heteromeric complex that displays enhanced activity in an ubiquitin conjugating enzyme-selective manner.

PMID 10837480 2000 Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p.

PMID 10562279 1999 PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import.

PMID 11370741 2001 Pex12p of Saccharomyces cerevisiae is a component of a multi-protein complex essential for peroxisomal matrix protein import.

PMID 20681997 2011 Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs.

PMID 27124789 2016 Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden.

rs144259891 in PEX12 gene and PEROXISOME BIOGENESIS DISORDER 3B PMID 21031596 2011 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

PMID 9792857 1998 Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.

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

PMID 14571262 2004 Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.

PMID 27763634 2017 Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing.

PMID 11370741 2001 Pex12p of Saccharomyces cerevisiae is a component of a multi-protein complex essential for peroxisomal matrix protein import.

PMID 22471590 2012 The RING-type ubiquitin ligases Pex2p, Pex10p and Pex12p form a heteromeric complex that displays enhanced activity in an ubiquitin conjugating enzyme-selective manner.

PMID 10837480 2000 Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p.

PMID 10562279 1999 PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import.

PMID 20681997 2011 Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs.

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

PMID 9090384 1997 Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders.

PMID 27124789 2016 Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden.

rs144259891 in PEX12 gene and Peroxisome biogenesis disorders PMID 9792857 1998 Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.

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

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 25287621 2015 Zellweger syndrome and secondary mitochondrial myopathy.

PMID 10527683 1999 Genotype-phenotype correlations in disorders of peroxisome biogenesis.

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

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

PMID 29389947 2018 Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.

rs1046321 in PEX12 gene and RDW - Red blood cell distribution width result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs1046321 in PEX12 gene and Red cell distribution width determination PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.