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SMNDC1 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.
Gene Name: | survival motor neuron domain containing 1 |
Synonyms: | SMNDC1, 30 kDa splicing factor SMNrp, SMNR, SPF30, SMN-related protein |
Target Sequences: | NM_005871 NP_005862.1 |
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