Function
Sequence-specific RNA-binding protein which participates in the control of pre-mRNA splicing. Can either activate or suppress exon inclusion. Acts additively with RBMX to promote exon 7 inclusion of the survival motor neuron SMN2.
Biological Context
Subcellular Location: Nucleus
Tissue Specificity: Highest expression in heart, skeletal muscle and pancreas. Less abundant in kidney, placenta and brain. Lowest expression in kidney and liver
Disease Association: Ramond-Elliott neurodevelopmental syndrome (RAMELN) : An autosomal dominant disorder manifesting in infancy or the first years of life, and characterized by global developmental delay, hypotonia, delayed walking or inability to walk, intellectual disability, poor or absent speech, and behavioral problems. Affected individuals frequently develop infantile spasms that may be severe and refractory. Additional variable features include poor overall growth, dysmorphic facial features, feeding difficulties, and brain anomalies. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Transformer-2 protein homolog beta (TRA2B), partial is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 111-201aa, with N-terminal 6xHis-SUMO-tagged tag, molecular weight 26.5kDa, purity Greater than 85% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
