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产品简介

基因名	SMN2
英文全称	survival of motor neuron 2, centromeric
别称	BCD541;GEMIN1;SMNC;TDRD16B
中文名称	运动神经元生存蛋白
Uniprot	Q16637
交叉反应(推测)	Human
氨基酸大小	32kDa
表达氨基酸	1-294aa
Background	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.While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease.This gene 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 full length 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.Four transcript variants encoding distinct isoforms have been described.
Application	Immunology research
Derived from	E.coli
Purification	NI-NTA affinity purification
Formulation	Lyophilized from a 0.2 μm filtered solution of Tris-HCl, PH8.0.
Shipping	The product is shipped at -20°C temperature. Upon receipt, store it immediately at the temperature listed below.
Storage	Reconstituted protein solution can be stored at 4-7°C for 1-2 months, stable at < -20°C for 2-3 years.
Reconstitution	Reconstituted protein solution can be diluted with distilled PBS. Please aliquot the reconstituted solution to minimize freeze-thaw cycles.
Purity	Purity≥85% as determined by reducing SDS-PAGE.
Endotoxin	/
GeneID	6607/6606
Bioactive	Unknown. (Ban't be used in biological activity experiments such as cell culture, treatment and diagnosis.)
规格	10ug50ug100ug1mg