MAFB

MAF bZIP transcription factor B

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. This gene contains no introns. [provided by RefSeq, Jul 2008]

From UniProt:

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.

From NCBI Gene:

  • DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS
  • Multicentric osteolysis nephropathy

From UniProt:

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. Mental retardation and minor facial anomalies have been noted in some patients. [MIM:166300]

Cytogenetic Location: 20q12, which is the long (q) arm of chromosome 20 at position 12

Molecular Location: base pairs 40,685,848 to 40,689,240 on chromosome 20 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 20q12, which is the long (q) arm of chromosome 20 at position 12
  • DURS3
  • KRML
  • MCTO