{"symbol":"C21ORF2","synonyms":["YF5/A2","CFAP410","C21orf2","RDMS","SMDAX","LRRC76"],"name":"chromosome 21 open reading frame 2","description":"Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]","ncbiEntrezGeneId":755,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/755","proteins":[{"symbol":"CU002_HUMAN","href":"/api/1.0/protein/CU002_HUMAN"}],"hgncRootFamilies":[]}