Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Iron is essential to life but it is poorly soluble in biological fluids and toxic in excess. Organisms have developed multiple proteins to insure iron transport and storage, and some of these have only been discovered recently. Among them, members of the Nramp family are transmembrane proteins which transport several divalent cations, including Fe2+. These proteins participate in intestinal iron absorption, erythopoiesis and microbial defence. Frataxin, which is deficient in Friedreich's ataxia, regulates iron flux through mitochondria. The intracellular labile iron pool, an intermediate form of iron between different subcellular compartments, regulates ferritin synthesis and stability of mRNA coding for proteins of iron transport. Subunit composition of ferritin plays an important role in the control of the size of this labile iron pool.
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PMID:[Intracellular iron metabolism]. 1098 40