Function
Required for pre-mRNA splicing as component of the spliceosome. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable).
Biological Context
Subcellular Location: Nucleus; Nucleus speckle
Tissue Specificity: Expressed in liver, placenta, and white blood cells
Disease Association: Intellectual developmental disorder, autosomal dominant 72 (MRD72) : An autosomal dominant disorder characterized by mild developmental delay and intellectual disability, predominant speech delay, autistic or attention deficit-hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight, and dysmorphic facial features. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Serine/arginine repetitive matrix protein 2 (SRRM2), partial is a recombinant protein from Homo sapiens (Human), expressed in Baculovirus, covering amino acids 1666-2089aa, with N-terminal 10xHis-tagged and C-terminal Myc-tagged tag, molecular weight 53.8kDa, purity Greater than 85% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
