Aconitate hydratase 1 (aco1) encodes a cytosolic iron regulatory protein that also functions as the enzyme aconitase in the tricarboxylic acid cycle, facilitating the isomerization of citrate to isocit...[+]

Aconitate hydratase 1 (aco1) encodes a cytosolic iron regulatory protein that also functions as the enzyme aconitase in the tricarboxylic acid cycle, facilitating the isomerization of citrate to isocitrate; its mRNA expression is detected in the oocyte, egg, and throughout early embryonic development including the neurula stage. This protein binds iron responsive elements on specific mRNAs to post-transcriptionally regulate their stability and translation in response to cellular iron levels. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD