Key features and details
- Mouse polyclonal to SMN/Gemin 1
- Suitable for: WB
- Reacts with: Human
- Isotype: IgG
Product nameAnti-SMN/Gemin 1 antibody
See all SMN/Gemin 1 primary antibodies
DescriptionMouse polyclonal to SMN/Gemin 1
Tested applicationsSuitable for: WBmore details
Species reactivityReacts with: Human
Full length protein corresponding to Human SMN/Gemin 1 aa 1-282.
- Human kidney lysate
Storage instructionsShipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
Storage bufferpH: 7.40
Concentration information loading...
PurityProtein A purified
Our Abpromise guarantee covers the use of ab88979 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
|WB||1/500 - 1/1000. Predicted molecular weight: 31 kDa.|
FunctionThe SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus. It may also play a role in the metabolism of snoRNPs.
Tissue specificityExpressed in a wide variety of tissues. Expressed at high levels in brain, kidney and liver, moderate levels in skeletal and cardiac muscle, and low levels in fibroblasts and lymphocytes. Also seen at high levels in spinal cord. Present in osteoclasts and mononuclear cells (at protein level).
Involvement in diseaseDefects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 1 (SMA1) [MIM:253300]. Spinal muscular atrophy refers to a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Autosomal recessive forms are classified according to the age of onset, the maximum muscular activity achieved, and survivorship. The severity of the disease is mainly determined by the copy number of SMN2, a copy gene which predominantly produces exon 7-skipped transcripts and only low amount of full-length transcripts that encode for a protein identical to SMN1. Only about 4% of SMA patients bear one SMN1 copy with an intragenic mutation. SMA1 is a severe form, with onset before 6 months of age. SMA1 patients never achieve the ability to sit.
Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550]. SMA2 is an autosomal recessive spinal muscular atrophy of intermediate severity, with onset between 6 and 18 months. Patients do not reach the motor milestone of standing, and survive into adulthood.
Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]. SMA3 is an autosomal recessive spinal muscular atrophy with onset after 18 months. SMA3 patients develop ability to stand and walk and survive into adulthood.
Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 4 (SMA4) [MIM:271150]. SMA4 is an autosomal recessive spinal muscular atrophy characterized by symmetric proximal muscle weakness with onset in adulthood and slow disease progression. SMA4 patients can stand and walk.
Sequence similaritiesBelongs to the SMN family.
Contains 1 Tudor domain.
Cellular localizationCytoplasm. Nucleus > gem. Localized in subnuclear structures next to coiled bodies, called Gemini of Cajal bodies.
- Information by UniProt
- BCD541 antibody
- Component of gems 1 antibody
- Gemin 1 antibody
Anti-SMN/Gemin 1 antibody (ab88979) at 1/500 dilution + Human kidney lysate at 50 µg
Predicted band size: 31 kDa
All lanes : Anti-SMN/Gemin 1 antibody (ab88979) at 1/500 dilution
Lane 1 : SMN2-transfected 293T cell lysate
Lane 2 : untransfected 293T cell lysate
Lysates/proteins at 25 µg per lane.
Predicted band size: 31 kDa
Observed band size: 31 kDa
ab88979 has not yet been referenced specifically in any publications.