Aliases for MAFA Gene
External Ids for MAFA Gene
MAFA is a transcription factor that binds RIPE3b, a conserved enhancer element that regulates pancreatic beta cell-specific expression of the insulin gene (INS; MIM 176730) (Olbrot et al., 2002 [PubMed 12011435]).[supplied by OMIM, Mar 2008]
GeneCards Summary for MAFA Gene
MAFA (V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Homolog A) is a Protein Coding gene. Diseases associated with MAFA include fibrosarcoma and hyperglycemia. Among its related pathways are L1CAM interactions and Regulation of beta-cell development. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is MAF.
UniProtKB/Swiss-Prot for MAFA Gene
Acts as a transcriptional factor. Specifically binds the insulin enhancer element RIPE3b and activates insulin gene expression. Cooperates synergistically with NEUROD1 and PDX1. Phosphorylation by GSK3 increases its transcriptional activity and is required for its oncogenic activity. Involved either as an oncogene or as a tumor suppressor, depending on the cell context.