DISEASES

Disease-gene associations mined from literature

Literature associating ACO1 and hemochromatosis type 1

ACO1 [ENSP00000309477]

Iron-responsive element-binding protein 1; Iron sensor. Binds a 4Fe-4S cluster and functions as aconitase when cellular iron levels are high. Functions as mRNA binding protein that regulates uptake, sequestration and utilization of iron when cellular iron levels are low. Binds to iron-responsive elements (IRES) in target mRNA species when iron levels are low. Binding of a 4Fe-4S cluster precludes RNA binding.

Synonyms:  ACO1,  ACO1p,  hACO1,  HEL60,  IRP1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM