{"symbol":"FXN","synonyms":["CYAY","FRDA","X25","FARR"],"name":"frataxin","description":"This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to \u003e90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]","ncbiEntrezGeneId":2395,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/2395","proteins":[{"symbol":"FRDA_HUMAN","href":"/api/1.0/protein/FRDA_HUMAN"}],"hgncRootFamilies":[]}