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

Gene: GATAD1

Alternate names for this Gene: CMD2B|ODAG|RG083M05.2

Gene Summary: The protein encoded by this gene contains a zinc finger at the N-terminus, and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessive dilated cardiomyopathy. 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: GATA zinc finger domain containing 1

Type of Gene: protein-coding

rs147403447 in PEX1;GATAD1 gene and Body Height PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs1057517518 in PEX1;GATAD1 gene and Infantile Refsum Disease (disorder) PMID 27353947 2016 Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

rs1057517518 in PEX1;GATAD1 gene and PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) PMID 27353947 2016 Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

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

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

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

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

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

rs61750426 in PEX1;GATAD1 gene and Peroxisome biogenesis disorders PMID 12032265 2002 PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease.