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FLASH GENE
Symbol CREB1 contributors: mct/shn - updated : 08-06-2016
HGNC name cAMP responsive element binding protein 1
HGNC id 2345
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
decreased mitochondrial CREB activity contributes to the mitochondrial dysfunction and neuronal loss associated with neurodegenerative disorders
constitutional germinal mutation      
a p.D116G mutation in CREB1 leads to novel multiple malformation syndrome
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
mental retardationtrisomy 
identification of direct endogenous CREB1 target genes may have important insight into the causes and treatments of Down syndrome pathogenesis
cancerlung 
CREB1-GSK3A axis is a novel therapeutic target for lung cancer treatment
ANIMAL & CELL MODELS
  • transgenic mice expressing a dominant-negative form of the CREB1 develop dilated cardiomyopathy associated with hepatic congestion and peripheral edema, intracardiac thrombi, and premature mortality
  • CREB null mice are smaller, display a strong reduction in the corpus callosum and the anterior commissures in brain and die immediately after birth from respiratory distress
  • mice with a disruption of CREB1exhibit fasting hypoglycaemia and reduced expression of gluconeogenic enzymes
  • disrupted Creb1 and Crem in brain of developing and adult mice using the Cre/loxP system leads to progressive neurodegeneration in the hippocampus and in the dorsolateral striatum
  • mice harboring a null mutation in the Creb gene, sensory neurons exhibit excess apoptosis and degeneration, and display impaired axonal growth and projections
  • mice deficient in CREB activity have a fatty liver phenotype and display elevated expression of the nuclear hormone receptor PPAR-gamma (ID: 14614508)
  • mice expressing a dominant-negative CREB transgene exhibit a dystrophic phenotype along with reduced MEF2 activity