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Overexpression of SNRPE is associated with highly aggressive breast cancers.
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex
In the SME intron, the position of the branchpoint A residue within the region base paired with U12 differs from that in P120 (show HNRNPU Proteins) and XTF.
growth arrest by SmE directly correlates with the reduction of cyclin E (show CCNE1 Proteins), CDK2 (show CDK2 Proteins), CDC25C (show CDC25C Proteins) and CDC2 (show CDK1 Proteins) expression, and up-regulation of p27Kip
This gene encodes a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene are associated with cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance. Mutations in this gene have also been associated with various cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. A pseudogene, which is located on chromosome X, has been identified for this gene.
sm protein E
, small nuclear ribonucleoprotein E
, small nuclear ribonucleoprotein polypeptide E
, SmE protein