MAFB (gene)

MAFB (gene)

The MAFB gene, also known as V-maf musculoaponeurotic fibrosarcoma oncogene homolog B, is a gene that is located on the 20th chromosome in humans. This gene is part of the MAF gene family and plays a crucial role in the development and function of various tissues and organs in the body.

Function

The MAFB gene encodes a protein that functions as a transcription factor, which means it helps control the activity of other genes. This protein is involved in the development of the kidney and pancreas, and it also plays a role in the differentiation of certain types of immune cells, including macrophages and dendritic cells.

Clinical significance

Mutations in the MAFB gene have been associated with several medical conditions. For example, a rare genetic disorder known as Multicentric carpotarsal osteolysis syndrome is caused by mutations in this gene. This condition is characterized by progressive bone loss, particularly in the hands and feet, and kidney problems.

In addition, research has suggested that variations in the MAFB gene may be associated with an increased risk of developing type 2 diabetes and certain types of cancer, although more studies are needed to confirm these findings.

See also

• MAF (gene)
• Transcription factor
• Chromosome 20