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

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

rs61750427 in GATAD1;PEX1 gene and HEIMLER SYNDROME 1 PMID 27302843 2016 Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

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

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

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

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

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

rs61750427 in GATAD1;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 16088892 2005 Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms.

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

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

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

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

rs267608179 in GATAD1;PEX1 gene and PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) PMID 15542397 2004 The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.

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

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

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

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

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

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

rs61750428 in GATAD1;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 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.