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FLASH GENE
Symbol CEBPA contributors: mct/npt/pgu - updated : 23-09-2016
HGNC name CCAAT/enhancer binding protein (C/EBP), alpha
HGNC id 1833
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   deletion    
212delC associated with familial acute myeloblastic leukemia with good prognostic
tumoral       loss of function
or low expressed in acute myeloid leukemia
tumoral somatic mutation      
cause a myeloid differentiation block and were detected in acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), multiple myeloma and non-Hodgkin's lymphoma (NHL)
tumoral     --low  
contributes to MN1-modulated proliferation and impaired myeloid differentiation of hematopoietic cells
tumoral       loss of function
SOX4 overexpression resulting from its inactivation contributes to the development of leukemia with a distinct leukemia-initiating cells (LICs) phenotype
Susceptibility
Variant & Polymorphism 212delC associated with familial acute myeloblastic leukemia with good prognostic
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS