CEBPE ist ein Gen, das durch das Symbol CEBPE kodiert wird. Andere Namen sind: CCAAT/enhancer-binding protein epsilon; C/EBP epsilon. CEBPE hat eine Masse von 30.6kDa, eine Aminosäurelänge von 281, und ist an Specific granule deficiency 1 beteiligt.
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Gen- und Proteininformationen
UniProt Zusammenfassung
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).
Entrez Zusammenfassung
The protein encoded by this gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with Specific Granule Deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined.
Gewebespezifität
Strongest expression occurs in promyelocyte and late-myeloblast-like cell lines.
Rolle bei Krankheiten
Specific granule deficiency 1: An autosomal recessive 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.
Sequenzähnlichkeiten
Belongs to the bZIP family. C/EBP subfamily.
Posttranslationale Modifikation
Phosphorylated.
