Mouse SMN Monoclonal Antibody | anti-SMN antibody

SMN (Human, Mouse, Rat) Mouse Monoclonal

Cat. Num. AAA7604266

• Gene Names: SMN1; SMA; SMN; SMA1; SMA2; SMA3; SMA4; SMA@; SMNT; BCD541; GEMIN1; TDRD16A; T-BCD541
• Reactivity: Human, Mouse, Rat
• Applications: ELISA, Western Blot
• Purity: >=95% as determined by SDS-PAGE; Protein A+G purification
• Synonyms: SMN; Monoclonal Antibody; SMN (Human; Mouse; Rat) Mouse Monoclonal; anti-SMN antibody

• Host: Mouse
• Reactivity: Human, Mouse, Rat
• Clonality: Monoclonal
• Isotype: IgG1
• Purity/Purification: >=95% as determined by SDS-PAGE; Protein A+G purification
• Form/Format: Liquid
• Sequence Length: 294

• Applicable Applications for anti-SMN antibody: ELISA (EIA), Western Blot (WB)
• Immunogen: Survival of motor neuron 2, centromeric
• Preparation and Storage: PBS with 0.02% sodium azide and 50% glycerol pH 7.3, -20 degree C for 24 months (Avoid repeated freeze / thaw cycles.)

Immunofluorescence (IF)

(Immunofluorescent analysis of (-20 degree C Ethanol) fixed HEK-293 cells using MBS7604266 (SMN antibody) at dilution of 1:100 and Alexa Fluor 488-congugated Goat Anti-Mouse IgG (H+L))

Western Blot (WB)

(A375 cells were subjected to SDS PAGE followed by western blot with MBS7604266 (SMN antibody) at dilution of 1:3000)

NCBI and Uniprot Product Information

• NCBI GI #: 1737214
• NCBI GeneID: 6606
• Molecular Weight: 27,135 Da
• NCBI Official Full Name: survival motor neuron protein SMN
• NCBI Official Synonym Full Names: survival of motor neuron 1, telomeric
• NCBI Official Symbol: SMN1
• NCBI Official Synonym Symbols: SMA; SMN; SMA1; SMA2; SMA3; SMA4; SMA@; SMNT; BCD541; GEMIN1; TDRD16A; T-BCD541
• NCBI Protein Information: survival motor neuron protein
• UniProt Protein Name: Survival motor neuron protein
• UniProt Gene Name: SMN1
• UniProt Synonym Gene Names: SMN; SMNT
• UniProt Entry Name: SMN_HUMAN

NCBI Description

This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2014]

Uniprot Description

SMN: The 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. Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 1 (SMA1). 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). 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). 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). 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. Belongs to the SMN family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: RNA processing; RNA-binding

Chromosomal Location of Human Ortholog: 5q13.2

Cellular Component: Cajal body; cytoplasm; cytosol; neuron projection; nucleoplasm; nucleus; perikaryon; SMN complex; Z disc

Molecular Function: identical protein binding; protein binding; RNA binding

Biological Process: nervous system development; nuclear import; spliceosomal snRNP biogenesis; spliceosome assembly; transcription termination

Disease: Spinal Muscular Atrophy, Type I; Spinal Muscular Atrophy, Type Ii; Spinal Muscular Atrophy, Type Iii; Spinal Muscular Atrophy, Type Iv