Disease-gene associations mined from literature

Literature associating MAFA and hyperinsulinemic hypoglycemia

MAFA [ENSP00000328364]

V-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A; 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; Belongs to the bZIP family. Maf subfamily.

Synonyms:  MAFA,  D4Q8H3,  Q8NHW3,  D4Q8H3p,  hD4Q8H3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM