CEBPE
Function
Transcriptional activator (PubMed:26019275). C/EBP are DNA-binding proteins that recognize two different motifs: the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers. Required for the promyelocyte-myelocyte transition in myeloid differentiation (PubMed:10359588).
Involvement in disease
Specific granule deficiency 1
SGD1
An immunologic disorder characterized by recurrent pyogenic infections, defective neutrophil chemotaxis and bactericidal activity, and lack of neutrophil secondary granule proteins. Neutrophils of affected individuals lack lactoferrin and show abnormal nuclear segmentation, bilobed nuclei, low alkaline phosphatase, and increased number of neutrophil mitochondria and ribosomes. SGD1 inheritance can be autosomal dominant or recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Immunodeficiency 108 with autoinflammation
IMD108
An autosomal recessive disorder characterized by autoinflammation and immune impairment of neutrophils, manifesting around adolescence. Affected individuals have recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers. Additional features include recurrent infections, particularly of the skin and nails, poor wound healing, and mild bleeding tendencies.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated.
Sequence Similarities
Belongs to the bZIP family. C/EBP subfamily.
Tissue Specificity
Strongest expression occurs in promyelocyte and late-myeloblast-like cell lines.
Cellular localization
- Nucleus
Alternative names
CCAAT/enhancer-binding protein epsilon, C/EBP epsilon, CEBPE