SMN-Exon7 Antibody
Product Details
| Source | Mouse | Purification method | Protein G purification |
| Isotype | IgG1 | Storage | PBS with 0.02% sodium azide and 50% glycerol pH 7.3. Store at -20oC. |
|
Calculated molecular weight |
294aa,32 kDa |
Observed molecular
weight |
40 kDa |
|
GenBank accession number |
BC062723 | Gene ID (NCBI) | 6606 |
| Gene symbol | SMN1 | Synonyms | Component of gems 1, Gemin 1, SMN, SMN1, SMN2, SMNC, SMNT, Survival motor neuron protein, T BCD541 |
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by loss of anterior horn cells in the spinal cord and concomitant symmetrical muscle weakness and atrophy (PMID: 16364894 ). SMA is caused by deletion or mutations of the survival motor neuron (SMN1) gene. SMA patients lack a functional SMN1 gene, but they possess an intact SMN2 gene, which though nearly identical to SMN1, is only partially functional (PMID: 17355180). A large majority of SMN2 transcripts lack exon 7, resulting in production of a truncated, less stable SMN protein (PMID: 10369862). The level of SMN protein correlates with phenotypic severity of SMA. This antibody, 60255-1-Ig, raised against the C-ternimal region (275-294aa) encoded by the exon 7. |