Cat. Number:

Anti-Gemin 1抗體KL-11561R

Quantity size:

0.2ml

Concentration:

1mg/ml   Buffer = 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.

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 andAnti-Gemin 1抗體 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. [provided by RefSeq, Sep 2008]

Also known as:

Component of gems 1; Component of gems 2; Gemin 1; Gemin-1; SMA; SMA1; SMA3; SMN; SMN_HUMAN; SMN1; SMN2; SMNC; Anti-Gemin 1抗體SMNT; Survival motor neuron protein; survival of motor neuron 1, telomeric; survival of motor neuron 2, centromeric;Component of gems 1; Gemin 1; Gemin-1; Gemin1; SMA 1; SMA 2; SMA 3; SMA 4; SMA; SMA1; SMA2; SMA3; SMA4; SMN 1; SMN; SMN-1; SMN_HUMAN; SMN1; SMN2; SMNT; Survival motor neuron protein; Survival of motor neuron 1 (telomeric); survival of motor neuron 1; Survival of motor neuron 1, telomeric; T-BCD541; BCD541; SMN_HUMAN.

Specificity:

Storage:

Shipped at 4℃, Store at -20℃ (Avoid repeated freeze/thaw cycles).

Application:

WB=1:100-500  ELISA=1:500-1000  IHC-P=1:100-500  IHC-F=1:100-500  ICC=1:100-500  IF=1:100-500   
Not yet tested in other applications. Anti-Gemin 1抗體
Optimal working dilutions must be determined by the end user.