MAFB

The leucine-zipper domain is involved in the interaction with LRPICD.

Acts as a transcriptional activator or repressor (PubMed:27181683). 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. Required for the transcriptional activation of HOXB3 in the rhombomere r5 in the hindbrain (By similarity).

Multicentric carpotarsal osteolysis syndrome

MCTO

A rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Intellectual disability and minor facial anomalies have been noted in some patients.

None

The disease is caused by variants affecting the gene represented in this entry.

Duane retraction syndrome 3 with or without deafness

DURS3

A form of Duane retraction syndrome, a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction or both, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision. Some DURS3 patients manifest sensorineural hearing loss.

None

The disease is caused by variants affecting the gene represented in this entry.

Phosphorylated by GSK3 and MAPK13 on serine and threonine residues.

Sumoylated. Sumoylation on Lys-32 and Lys-297 stimulates its transcriptional repression activity and promotes macrophage differentiation from myeloid progenitors (By similarity).

Belongs to the bZIP family. Maf subfamily.

Ubiquitous.

• Nucleus

KRML, MAFB, Transcription factor MafB, Maf-B, V-maf musculoaponeurotic fibrosarcoma oncogene homolog B

• entrezGene:9935
• genbank:AF134157.1
• omim:608968
• swissprot:Q9Y5Q3

Proteins

Immunology & Infectious Disease

35792Da