(mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full ...
About the gene Official SymbolKMT2B Previous Symbol- Official Full Namelysine methyltransferase 2B SynonymsKIAA0304; MLL2; TRX2; HRX2; WBP7; MLL1B; MLL4; CXXC10 Location19q13.12 Gene Typeprotein_coding Uniprot IDQ9UMN6 Pathway/LibraryEpigenetic Regulators Related Genes Library ...
three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult ...
[3] Abela L, Kurian MA. KMT2B-related dystonia. In: GeneReviews® [Internet]. Seattle: University of Washington; 2018. [4] Gorman KM, Meyer E, Kurian MA. Review of the phenotype of early-onset generalised progressive dystonia due to muta...
(mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full ...
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia[J]. Nat Genet, 2017,49(2):223-237. DOI: 10.1038/ng.3740 . 返回引文位置Google Scholar 百度学术 万方数据 [2] Balint B , Mencacci NE , Valente EM ,et al. Dystonia[J]. Nat Rev Dis Primers, 2018...
[3] Abela L, Kurian MA. KMT2B-related dystonia. In: GeneReviews® [Internet]. Seattle: University of Washington; 2018. [4] Gorman KM, Meyer E, Kurian MA. Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B. Eur J Paediatr Neurol 2018;22:...
New gene implicated in early-onset generalized dystonia: Lysine-specific methyltransferase 2B (KMT2B)doi:10.1002/mds.26928Sue-Faye Siow MBBSDepartment of NeurogeneticsKishore R. Kumar MBBSDepartment of NeurogeneticsPhDDepartment of NeurogeneticsFRACP
Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq, Jul 2008] 基因名: KMT2B 别名: HRX2,MLL2,MLL4,TRX2,WBP7,DYT28,MLL1B,WBP-7,CXXC10 基因ID...
Gene ID (NCBI) 9757 Alternative Names CXXC10, DYT28, HRX2, MLL1B, MLL2, MLL4, TRX2, WBP-7, WBP7 Application Notes: The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user. ...