DISEASES

Disease-gene associations mined from literature

Literature associating CEBPB and Schmid metaphyseal chondrodysplasia

CEBPB [ENSP00000305422]

CCAAT/enhancer binding protein (C/EBP), beta; Important transcription factor regulating the expression of genes involved in immune and inflammatory responses. Plays also a significant role in adipogenesis, as well as in the gluconeogenic pathway, liver regeneration, and hematopoiesis. The consensus recognition site is 5'- T[TG]NNGNAA[TG]-3'. Its functional capacity is governed by protein interactions and post-translational protein modifications. During early embryogenesis, plays essential and redundant functions with CEBPA. Has a promitotic effect on many cell types such as hepatocytes and adipocytes but has an antiproliferative effect on T-cells by repressing MYC expression, facilitating differentiation along the T-helper 2 lineage. Binds to regulatory regions of several acute-phase and cytokines genes and plays a role in the regulation of acute-phase reaction and inflammation. Plays also a role in intracellular bacteria killing (By similarity). During adipogenesis, is rapidly expressed and, after activation by phosphorylation, induces CEBPA and PPARG, which turn on the series of adipocyte genes that give rise to the adipocyte phenotype. The delayed transactivation of the CEBPA and PPARG genes by CEBPB appears necessary to allow mitotic clonal expansion and thereby progression of terminal differentiation. Essential for female reproduction because of a critical role in ovarian follicle development (By similarity). Restricts osteoclastogenesis (By similarity); Belongs to the bZIP family. C/EBP subfamily.

Synonyms:  CEBPB,  P17676,  Q9BSC0,  W8SNV5,  P17676p ...

Linkouts:  STRING  Pharos  UniProt  OMIM