Aliases for CEBPE Gene
External Ids for CEBPE Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for CEBPE Gene
CEBPE (CCAAT/Enhancer Binding Protein (C/EBP), Epsilon) is a Protein Coding gene. Diseases associated with CEBPE include neutrophil-specific granule deficiency and specific granule deficiency. Among its related pathways are Transcriptional misregulation in cancer. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is CEBPG.
UniProtKB/Swiss-Prot for CEBPE Gene
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