{"symbol":"SMNDC1","synonyms":["SPF30","TDRD16C","SMNR"],"name":"survival motor neuron domain containing 1","description":"This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":10285,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/10285","proteins":[{"symbol":"SPF30_HUMAN","href":"/api/1.0/protein/SPF30_HUMAN"}],"hgncRootFamilies":[{"name":"Tudor domain containing (TDRD)","href":"/api/1.0/gene_family/Tudor+domain+containing+%28TDRD%29"}]}