SNRNP200 Recombinant antibody

SNRNP200 (small nuclear ribonucleoprotein 200kDa (U5)), also known as HELIC2, ASCC3L1 or BRR2, is a 2,136 amino acid protein that localizes to the nucleus and contains two SEC63 domains, two helicase C-terminal domains and two helicase ATP-binding domains. Existing as multiple alternatively spliced isoforms, HELIC2 functions as an RNA helicase that is thought to promote specific RNA-RNA conformational changes which are important in the second step of RNA splicing. The gene encoding HELIC2 maps to human chromosome 2, which houses over 1,400 genes and comprises nearly 8% of the human genome. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the chromosome 2-localized ABCA12 gene, while the lipid metabolic disorder sitosterolemia is associated with defects in the ABCG5 and ABCG8 genes, hich also map to chromosome 2. The observed molecular weight of SNRNP200 is 200-245kd.