MAFA
Function
Transcription factor that activates insulin gene expression (PubMed:12011435, PubMed:15993959). Acts synergistically with NEUROD1/BETA2 and PDX1 (PubMed:15993959). Binds the insulin enhancer C1/RIPE3b element (PubMed:12011435). Binds to consensus TRE-type MARE 5'-TGCTGACTCAGCA-3' DNA sequence (PubMed:23148532, PubMed:29339498).
Involvement in disease
Insulinomatosis and diabetes mellitus
INSDM
An autosomal dominant disorder characterized by the occurrence of multicentric insulinomas, hyperinsulinemic hypoglycemia, non insulin-dependent diabetes mellitus, and impaired glucose tolerance. Some patients also exhibit congenital cataract and/or congenital glaucoma.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Ubiquitinated, leading to its degradation by the proteasome.
Phosphorylated at tyrosines.
Sequence Similarities
Belongs to the bZIP family. Maf subfamily.
Tissue Specificity
Expressed in the islets of Langerhans (at protein level).
Cellular localization
- Nucleus
Alternative names
Transcription factor MafA, Pancreatic beta-cell-specific transcriptional activator, RIPE3b1 factor, V-maf musculoaponeurotic fibrosarcoma oncogene homolog A, MAFA