SMNDC1, Official Symbol SMNDC1provided by HGNC Official Full Name survival motor neuron domain containing 1provided by HGNC Primary source HGNC:HGNC:16900 See related Ensembl:ENSG00000119953 MIM:603519; AllianceGenome:HGNC:16900 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SMNR; SPF30; TDRD16C Summary 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] Expression Ubiquitous expression in bone marrow (RPKM 20.9), lymph node (RPKM 13.0) and 25 other tissues See more Orthologs mouse all