(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].
Hillier, Fulton, Fulton, Graves, Pepin, Wagner-McPherson, Layman, Maas, Jaeger, Walker, Wylie, Sekhon, Becker, OLaughlin, Schaller, Fewell, Delehaunty, Miner, Nash, Cordes, Du, Sun, Edwards et al.: "The DNA sequence of human chromosome 7. ..." in: Nature, Vol. 424, Issue 6945, pp. 157-64, (2003) (PubMed).
Yuryev, Ono, Goff, Macaluso, Wennogle: "Isoform-specific localization of A-RAF in mitochondria." in: Molecular and cellular biology, Vol. 20, Issue 13, pp. 4870-8, (2000) (PubMed).
Barnier, Papin, Eychène, Lecoq, Calothy: "The mouse B-raf gene encodes multiple protein isoforms with tissue-specific expression." in: The Journal of biological chemistry, Vol. 270, Issue 40, pp. 23381-9, (1995) (PubMed).
Eychène, Dusanter-Fourt, Barnier, Papin, Charon, Gisselbrecht, Calothy: "Expression and activation of B-Raf kinase isoforms in human and murine leukemia cell lines." in: Oncogene, Vol. 10, Issue 6, pp. 1159-65, (1995) (PubMed).
Stephens, Sithanandam, Copeland, Kaplan, Rapp, Morrison: "95-kilodalton B-Raf serine/threonine kinase: identification of the protein and its major autophosphorylation site." in: Molecular and cellular biology, Vol. 12, Issue 9, pp. 3733-42, (1992) (PubMed).
Sithanandam, Kolch, Duh, Rapp: "Complete coding sequence of a human B-raf cDNA and detection of B-raf protein kinase with isozyme specific antibodies." in: Oncogene, Vol. 5, Issue 12, pp. 1775-80, (1991) (PubMed).
Aliases for SNRPE 抗体
small nuclear ribonucleoprotein polypeptide E (SNRPE) 抗体 small nuclear ribonucleoprotein polypeptide E L homeolog (snrpe.L) 抗体 small nuclear ribonucleoprotein E (Snrpe) 抗体 small nuclear ribonucleoprotein polypeptide E (snrpe) 抗体 small nuclear ribonucleoprotein polypeptide E (Snrpe) 抗体 AL022645 抗体 B-raf 抗体 b-raf 抗体 C76690 抗体 HYPT11 抗体 Sm-E 抗体 sm-e 抗体 SME 抗体 sme 抗体 SmE 抗体 snRNP-E 抗体 zgc:56682 抗体