Gene Symbol | CEBPE |
Entrez Gene ID | 1053 |
Full Name | CCAAT/enhancer binding protein epsilon |
Synonyms | C/EBP-epsilon,CRP1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Specific granule deficiency, 245480 (3) |