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MAFB

MAFB

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

What is the official name of the MAFB gene?

The official name of this gene is “v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B.”

MAFB is the gene's official symbol. The MAFB gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the MAFB gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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 UniProtThis link leads to a site outside Genetics Home Reference.:

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, 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.

How are changes in the MAFB gene related to health conditions?

UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the MAFB gene's known or predicted involvement in human disease.

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.[1]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the MAFB gene.
  • Multicentric osteolysis nephropathy[1]This link leads to a site outside Genetics Home Reference.
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]

Where is the MAFB gene located?

Cytogenetic Location: 20q11.2-q13.1

Molecular Location on chromosome 20: base pairs 40,685,847 to 40,689,239

The MAFB gene is located on the long (q) arm of chromosome 20 between positions 11.2 and 13.1.

The MAFB gene is located on the long (q) arm of chromosome 20 between positions 11.2 and 13.1.

More precisely, the MAFB gene is located from base pair 40,685,847 to base pair 40,689,239 on chromosome 20.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about MAFB?

You and your healthcare professional may find the following resources about MAFB helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the MAFB gene or gene products?

  • KRML
  • MCTO

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding MAFB?

arthritis ; cell ; chronic ; differentiation ; gene ; insulin ; juvenile ; leucine ; lineage ; macrophage ; mental retardation ; myeloid ; nephropathy ; oncogene ; promoter ; protein ; renal ; repressor ; syndrome ; transcription ; transcription factor ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: September 15, 2014