(Small Nuclear Ribonucleoprotein Polypeptide E (SNRPE))
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. [provided by RefSeq, Jul 2008].
small nuclear ribonucleoprotein polypeptide E (SNRPE) 蛋白 small nuclear ribonucleoprotein polypeptide E L homeolog (snrpe.L) 蛋白 small nuclear ribonucleoprotein E (Snrpe) 蛋白 small nuclear ribonucleoprotein polypeptide E (snrpe) 蛋白 small nuclear ribonucleoprotein polypeptide E (Snrpe) 蛋白 AL022645 蛋白 B-raf 蛋白 b-raf 蛋白 C76690 蛋白 HYPT11 蛋白 Sm-E 蛋白 sm-e 蛋白 SME 蛋白 sme 蛋白 SmE 蛋白 snRNP-E 蛋白 zgc:56682 蛋白