DISEASES

Disease-gene associations mined from literature

Literature associating IREB2 and hemochromatosis type 1

IREB2 [ENSP00000258886]

Iron-responsive element binding protein 2; RNA-binding protein that binds to iron-responsive elements (IRES), which are stem-loop structures found in the 5'- UTR of ferritin, and delta aminolevulinic acid synthase mRNAs, and in the 3'-UTR of transferrin receptor mRNA. Binding to the IRE element in ferritin results in the repression of its mRNA translation. Binding of the protein to the transferrin receptor mRNA inhibits the degradation of this otherwise rapidly degraded mRNA; Belongs to the aconitase/IPM isomerase family.

Synonyms:  IREB2,  IREB2p,  hIREB2,  H0YL48,  H0YLE0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM