Description
Key facts
Cell type:HeLa,
Species or organism:Human,
Tissue:Cervix,
Form:LiquidSee storage information,
Knockout validation:Sanger Sequencing,
Mutation description:Knockout achieved by using CRISPR/Cas9, Homozygous: 1 bp insertion in exon 2,
Disease:Adenocarcinoma
Product details:
We will provide viable cells that proliferate on revival.
This product is subject to limited use licenses from The Broad Institute, ERS Genomics Limited and Sigma-Aldrich Co. LLC, and is developed with patented technology. For full details of the licenses and patents please refer to our
limited use license
patent pages
Properties and Storage Information:
Gene name-GEMIN6, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Zygosity-Homozygous, Shipped at conditions-Dry Ice, Appropriate short-term storage conditions--196°C, Appropriate long-term storage conditions--196°C
Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
Gemin6 also known as SIP2 (Survival of Motor Neurons Interacting Protein 2) is a protein that plays a role in the assembly of small nuclear ribonucleoproteins (snRNPs). It has a molecular weight of approximately 39 kDa and is expressed mainly in the brain and spinal cord. This protein facilitates interactions within the SMN (Survival Motor Neuron) complex which is essential for the biogenesis of snRNPs necessary for pre-mRNA splicing.
Biological function summary
Gemin6/SIP2 functions as a component of the SMN complex which is key to snRNP maturation and assembly. The SMN complex plays an important role in the cellular machinery responsible for processing pre-mRNA to mature mRNA. Gemin6/SIP2 binds specifically to core proteins in snRNPs aiding in their stability and function. It ensures accurate splicing of mRNA which is critical for proper gene expression and cellular function.
Pathways
Several molecules are associated with the Gemin6/SIP2's role in spliceosomal snRNP assembly. It is involved in the pre-mRNA splicing pathway and links to the RNA transport pathway via the SMN complex. Proteins such as Gemin2 and Sm proteins relate closely to Gemin6/SIP2 through these pathways forming a functional network critical for RNA processing and regulation.
Gemin6/SIP2 has connections to neurodegenerative conditions such as spinal muscular atrophy (SMA). SMA is characterized by the loss of motor neurons which Gemin6/SIP2 influences through its function in the SMN complex. The dysfunction of this complex due to mutations or imbalances can contribute to the symptoms of SMA. Gemin6/SIP2 connects with SMN protein whose deficiency directly associates with the pathogenesis of SMA highlighting the significance of this protein in neurological health.
