Gemin 1 (SMN2) Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	ICC/IF, WB
Recommend Dilution	WB,1:500 - 1:2000 IHC,1:50 - 1:200 IF,1:50 - 1:200
Reactivity	Human, Mouse, Rat
Modifications	Unmodified
Host	Rabbit
Clonality	Polyclonal
Immunogen	Recombinant fusion protein containing a sequence corresponding to amino acids 1-197 of human SMN2 (NP_059107.1).
Formulation	Buffer: PBS with 0.02% sodium azide,50% glycerol,pH7.3.
Concentration	lot specific
Purification	Affinity purification
Conjugation	Unconjugated
Storage Condition	Store at -20℃. Avoid freeze / thaw cycles.
Predicted Protein Size	27kDa/28kDa/30kDa/31kDa
Gene Name	survival of motor neuron 2, centromeric
Database Link	Entrez Gene 6607 Human UniProt ID Q16637
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 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. 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.
Synonyms	BCD541; C-BCD541; FLJ76644; Gemin-1; MGC5208; MGC20996; SMN; SMNC; SMNT
Reference Data

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