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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 30 kDa splicing factor SMNrp; MGC106917; MGC112663; SMN related protein; SMN-related protein; splicing factor 30, survival of motor neuron-related; Survival motor neuron domain-containing protein 1; Survival of motor neuron-related-splicing factor 30; tudor domain containing 16C
基因别名: SMNDC1; SMNR; SPF30; TDRD16C
UniProt ID: (Human) O75940
Entrez Gene ID: (Human) 10285