| Symbol: Name: ID: |
SMNDC1 survival motor neuron domain containing 1 GFS:5988 |
| Gene name: | SMNDC1 |
| Chromosome: | 10q23 |
| Previous Symbols: | |
| Previous Names: | |
| Aliases: | SPF30, SMNR |
| Name Aliases: | splicing factor 30, survival of motor neuron-related |
| Locus Type: | gene with protein product |
| Mouse Genome Database ID: | MGI:1923729 | Rat Genome Database ID: | RGD:1309151 |
| HGNC ID: | HGNC:16900 | RefSeq IDs: | NM_005871 |
| Entrez Gene ID: | 10285 | Ensembl Gene ID: | ENSG00000119953 |
| VEGA IDs: | OTTHUMG00000019036 | UniProt ID: | O75940 |
| UCSC ID: | uc001kzc.3 | OMIM ID: | 603519 |
| Pubmed: | PMID9731529 PMID 9817934 | ||
| CCDS IDs: | CCDSCCDS7565.1 | ||
Survival of motor neuron-related-splicing factor 30 is a protein that in humans is encoded by the SMNDC1 gene.
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].
Function: Necessary for spliceosome assembly. Overexpression causes apoptosis.
Products for SMNDC1 gene
| Catalog | Product Name | Application | Company |
| GFS:E05988 | survival motor neuron domain containing 1; ELISA kit | ELISA | n/a |
| GFS:A05988 | survival motor neuron domain containing 1; Anti | ANTIBODIES | n/a |
| GFS:P05988 | survival motor neuron domain containing 1; Protien | Protien | n/a |
