Further Information
Survival motor neuron protein, Component of gems 1, Gemin-1, SMN1, SMN, SMNT
For WB starting dilution is: 1:1000
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. Two transcript variants encoding
distinct isoforms have been described.
- Todd, A.G., et al. J. Mol. Biol. 401(5):681-689(2010)
- Sheng-Yuan, Z., et al. Eur. J. Hum. Genet. 18(9):978-984(2010)
- Liu, W.L., et al. Zhongguo Dang Dai Er Ke Za Zhi 12(7):539-543(2010)
- Wang, C.C., et al. Anal Bioanal Chem 397(6):2375-2383(2010)
Supplied in PBS with 0.09% (W/V) sodium azide.
batch dependent
Unconjugated
Optimal dilutions/concentrations should be determined by the end user. The information provided is a guideline for product use. This product is for research use only.
Predicted species reactivity based on immunogen sequence: Monkey
This SMN1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 262-288 amino acids from the C-terminal region of human SMN1.
6606, 6607
Survival motor neuron protein
SMN1
Homo sapiens
Liquid
PREDICTED MOLECULAR WEIGHT:
32 kDa
Q16637
2498924
This antibody is purified through a protein A column, followed by peptide affinity purification.
Neuroscience,Signal Transduction
Q16637
Optimal dilutions for each application to be determined by the researcher.