| Gene Symbol | SMNDC1 |
| Entrez Gene ID | 10285 |
| Full Name | survival motor neuron domain containing 1 |
| Synonyms | SMNR,SPF30,TDRD16C |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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]. |
| Disorder MIM: |
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