MAFB
Description
The MAFB (MAF bZIP transcription factor B) is a protein-coding gene located on chromosome 20.
MAFB acts as a transcriptional activator or repressor, playing a crucial role in regulating lineage-specific hematopoiesis. It represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells, ensuring proper differentiation. MAFB is essential for monocytic, macrophage, osteoclast, podocyte, and islet beta cell differentiation. It contributes to renal tubule survival and F4/80 maturation. MAFB activates the insulin and glucagon promoters, and in conjunction with PAX6, weakly transactivates the glucagon gene promoter through the G1 element. SUMO modification regulates its transcriptional activity and ability to specify macrophage fate. It binds to the G1 element on the glucagon promoter. Depending on the cellular context, MAFB can act as either an oncogene or a tumor suppressor. It is required for the transcriptional activation of HOXB3 in the rhombomere r5 of the hindbrain.
MAFB is also known as DURS3, KRML, MCTO.
Associated Diseases
- Multicentric carpotarsal osteolysis syndrome
- Duane retraction syndrome
- Duane retraction syndrome 3 with or without deafness
- Multicentric carpo-tarsal osteolysis with or without nephropathy
