CEBPE gene

CCAAT/enhancer binding protein epsilon

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From 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).

From NCBI Gene:

  • Specific granule deficiency

From UniProt:

Specific granule deficiency 1 (SGD1): 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. [MIM:245480]

Cytogenetic Location: 14q11.2, which is the long (q) arm of chromosome 14 at position 11.2

Molecular Location: base pairs 23,117,306 to 23,119,611 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q11.2, which is the long (q) arm of chromosome 14 at position 11.2
  • C/EBP-epsilon
  • CRP1