Aliases for MAFA Gene
External Ids for MAFA Gene
Previous GeneCards Identifiers 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 (MAF BZIP Transcription Factor A) is a Protein Coding gene. Diseases associated with MAFA include Insulinomatosis And Diabetes Mellitus and Fibrosarcoma. Among its related pathways are Regulation of beta-cell development and Type II diabetes mellitus. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is MAF.
UniProtKB/Swiss-Prot Summary for MAFA Gene
Transcription factor that activates insulin gene expression (PubMed:15993959, PubMed:12011435). 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).