SMN1 Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	WB
Recommend Dilution	WB
Reactivity	Human, Mouse
Host	Rabbit
Clonality	Polyclonal
Immunogen	The immunogen for anti-SMN1 antibody: synthetic peptide directed towards the N terminal of human SMN1. Synthetic peptide located within the following region: KAVASFKHALKNGDICETSGKPKTTPKRKPAKKNKSQKKNTAASLQQWKV
Formulation	Liquid. Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose. Note that this product is shipped as lyophilized powder to China customers.
Purification	Affinity Purified
Conjugation	Unconjugated
Storage Condition	Store at -20°C as received.
Predicted Protein Size	28 kDa
Gene Name	survival of motor neuron 1, telomeric
Database Link	NP_075012 Entrez Gene 20595 MouseEntrez Gene 6606 Human UniProt ID Q16637
Background	SMN1 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.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. 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. Two transcript variants are produced by this gene.
Synonyms	BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4; SMA@; SMN; SMNT; T-BCD541; TDRD16A
Note	Immunogen Sequence Homology: Dog: 100%; Human: 100%; Mouse: 100%; Pig: 93%; Horse: 93%; Rat: 92%; Rabbit: 85%; Guinea pig: 85%
Reference Data
Protein Families	Druggable Genome, Stem cell - Pluripotency

*Delivery time may vary from web posted schedule. Occasional delays may occur due to unforeseen complexities in the preparation of your product. International customers may expect an additional 1-2 weeks in shipping.