{"symbol":"SPG11","synonyms":["CMT2X","KIAA1840","ALS5"],"name":"spastic paraplegia 11 (autosomal recessive)","description":"The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]","ncbiEntrezGeneId":80208,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/80208","proteins":[{"symbol":"SPTCS_HUMAN","href":"/api/1.0/protein/SPTCS_HUMAN"}],"hgncRootFamilies":[]}