Gene: MAFB

Alternate names for this Gene: DURS3|KRML|MCTO

Gene Summary: 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.

Gene is located in Chromosome: 20

Location in Chromosome : 20q12

Description of this Gene: MAF bZIP transcription factor B

Type of Gene: protein-coding

rs879255275 in MAFB gene and Duane Retraction Syndrome, Type 2 PMID 27181683 2016 Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.

rs1555826433 in MAFB gene and Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy PMID 22387013 2012 Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

rs879255275 in MAFB gene and Type 1 Duane Retraction Syndrome PMID 27181683 2016 Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.