Entrez gene ID | | 10285 |
Official gene symbol | | SMNDC1 |
Full name | | survival motor neuron domain containing 1 |
Aliases | | ,SMNR,SPF30, |
Gene 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] |
Location | | Chromosome: 10 Locus: 10q23 |
Gene position | | 112064707 - 112052798 Map Viewer |
Gene orientation | | minus |
Gene size | | 11910 bp |
Gene sequence |
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OMIM ID | | 603519 |
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