CEBPE est un gène codé par le symbole CEBPE. D'autres noms incluent: CCAAT/enhancer-binding protein epsilon; C/EBP epsilon. CEBPE a une masse de 30.6kDa, une longueur d'acide aminé de 281, et est impliqué dans Specific granule deficiency 1.
Nous proposons 8 des anticorps contre CEBPE, élevé dans Lapin et Souris, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF et Cytométrie en Flux avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
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).
Résumé Entrez
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.
Spécificité tissulaire
Strongest expression occurs in promyelocyte and late-myeloblast-like cell lines.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the bZIP family. C/EBP subfamily.
Modification post-traductionnelle
Phosphorylated.
Localisation cellulaire
Nucleus.
