SMN1 Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	IHC, WB
Recommend Dilution	WB,1:500 - 1:2000 IHC,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 80-150 of human SMN1 (NP_000335.1).
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 1, telomeric
Database Link	Entrez Gene 6606 Human UniProt ID Q16637
Background	This gene is part of a 500 kb inverted duplication on chromosome 5q13. 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. 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.
Synonyms	BCD541; Gemin-1; SMA; SMA1; SMA2; SMA3; SMA4; SMA@; SMN; SMNC; SMNT; T-BCD541
Reference Data

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