The protein encoded by this gene is abZIPtranscription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related proteinCEBP-δ. The encoded protein may be essential for terminal differentiation and functional maturation of committedgranulocyteprogenitor cells. Mutations in this gene have been associated withspecific 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.[5]
^Antonson P, Stellan B, Yamanaka R, Xanthopoulos KG (Jul 1996). "A novel human CCAAT/enhancer binding protein gene, C/EBPepsilon, is expressed in cells of lymphoid and myeloid lineages and is localized on chromosome 14q11.2 close to the T-cell receptor alpha/delta locus".Genomics.35 (1):30–8.doi:10.1006/geno.1996.0319.PMID8661101.
Sladek FM, Darnell JE (Apr 1992). "Mechanisms of liver-specific gene expression".Current Opinion in Genetics & Development.2 (2):256–9.doi:10.1016/S0959-437X(05)80282-5.PMID1638120.
Gombart AF, Koeffler HP (Jan 2002). "Neutrophil specific granule deficiency and mutations in the gene encoding transcription factor C/EBP(epsilon)".Current Opinion in Hematology.9 (1):36–42.doi:10.1097/00062752-200201000-00007.PMID11753076.S2CID25411864.
Antonson P, Stellan B, Yamanaka R, Xanthopoulos KG (Jul 1996). "A novel human CCAAT/enhancer binding protein gene, C/EBPepsilon, is expressed in cells of lymphoid and myeloid lineages and is localized on chromosome 14q11.2 close to the T-cell receptor alpha/delta locus".Genomics.35 (1):30–8.doi:10.1006/geno.1996.0319.PMID8661101.
Truong BT, Lee YJ, Lodie TA, Park DJ, Perrotti D, Watanabe N, Koeffler HP, Nakajima H, Tenen DG, Kogan SC (Feb 2003). "CCAAT/Enhancer binding proteins repress the leukemic phenotype of acute myeloid leukemia".Blood.101 (3):1141–8.doi:10.1182/blood-2002-05-1374.PMID12393450.
Gery S, Gombart AF, Fung YK, Koeffler HP (Feb 2004). "C/EBPepsilon interacts with retinoblastoma and E2F1 during granulopoiesis".Blood.103 (3):828–35.doi:10.1182/blood-2003-01-0159.PMID12947005.
