Gene: PURA

Alternate names for this Gene: MRD31|PUR-ALPHA|PUR1|PURALPHA

Gene Summary: This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia.

Gene is located in Chromosome: 5

Location in Chromosome : 5q31.3

Description of this Gene: purine rich element binding protein A

Type of Gene: protein-coding

rs1554129039 in PURA gene and Dysmorphic features PMID 26582469 2015 Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA.

PMID 18266931 2008 Proteomic analysis of nuclear factors binding to an intronic enhancer in the myelin proteolipid protein gene.

PMID 27148565 2015 De novo mutations in PURA are associated with hypotonia and developmental delay.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 25342064 2014 Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

PMID 17698009 2007 Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome.

PMID 22711443 2012 Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.

PMID 19182532 2009 Multiple roles for Puralpha in cellular and viral regulation.

PMID 1706516 1991 Dendritic location of neural BC1 RNA.

PMID 28486374 2017 Premature Thelarche and the PURA Syndrome.

PMID 25439098 2014 Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

PMID 23950017 2013 5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases.

PMID 29097605 2018 PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

PMID 29150892 2018 Expanding the neurodevelopmental phenotype of PURA syndrome.

PMID 21594995 2011 A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination.

PMID 12972605 2003 Puralpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse.

PMID 28164378 2017 Patient with a novel purine-rich element binding protein A mutation.

rs1554129091 in PURA gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 PMID 25439098 2014 Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

PMID 29097605 2018 PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

PMID 25342064 2014 Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

PMID 27148565 2015 De novo mutations in PURA are associated with hypotonia and developmental delay.

rs1554129039 in PURA gene and Movement Disorders PMID 19182532 2009 Multiple roles for Puralpha in cellular and viral regulation.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 18266931 2008 Proteomic analysis of nuclear factors binding to an intronic enhancer in the myelin proteolipid protein gene.

PMID 25439098 2014 Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

PMID 21594995 2011 A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination.

PMID 23950017 2013 5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases.

PMID 17698009 2007 Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome.

PMID 22711443 2012 Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.

PMID 25342064 2014 Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

PMID 27148565 2015 De novo mutations in PURA are associated with hypotonia and developmental delay.

PMID 26582469 2015 Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA.

PMID 1706516 1991 Dendritic location of neural BC1 RNA.

PMID 29150892 2018 Expanding the neurodevelopmental phenotype of PURA syndrome.

PMID 28164378 2017 Patient with a novel purine-rich element binding protein A mutation.

PMID 28486374 2017 Premature Thelarche and the PURA Syndrome.

PMID 29097605 2018 PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

PMID 12972605 2003 Puralpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse.

rs1554128999 in PURA gene and Muscle hypotonia PMID 26582469 2015 Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA.

PMID 23950017 2013 5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases.

PMID 25342064 2014 Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

PMID 22711443 2012 Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.

PMID 27148565 2015 De novo mutations in PURA are associated with hypotonia and developmental delay.

PMID 25439098 2014 Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

PMID 29150892 2018 Expanding the neurodevelopmental phenotype of PURA syndrome.

PMID 29097605 2018 PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

PMID 28164378 2017 Patient with a novel purine-rich element binding protein A mutation.

PMID 28486374 2017 Premature Thelarche and the PURA Syndrome.

PMID 19182532 2009 Multiple roles for Puralpha in cellular and viral regulation.

PMID 1706516 1991 Dendritic location of neural BC1 RNA.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 17698009 2007 Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome.

PMID 21594995 2011 A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination.

PMID 12972605 2003 Puralpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse.

PMID 18266931 2008 Proteomic analysis of nuclear factors binding to an intronic enhancer in the myelin proteolipid protein gene.