DISEASES

Disease-gene associations mined from literature

Literature associating MAFB and isolated cleft palate

MAFB [ENSP00000362410]

V-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B; Acts as a transcriptional activator or repressor. Plays a pivotal role in regulating lineage- specific hematopoiesis by repressing ETS1-mediated transcription of erythroid-specific genes in myeloid cells. Required for monocytic, macrophage, osteoclast, podocyte and islet beta cell differentiation. Involved in renal tubule survival and F4/80 maturation. Activates the insulin and glucagon promoters. Together with PAX6, transactivates weakly the glucagon gene promoter through the G1 element. SUMO modification controls its transcriptional activity and ability to specify macrophage fate. Binds element G1 on the glucagon promoter (By similarity). Involved either as an oncogene or as a tumor suppressor, depending on the cell context; Belongs to the bZIP family. Maf subfamily.

Synonyms:  MAFB,  Q9Y5Q3,  KRML,  Q9Y5Q3p,  hQ9Y5Q3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM