Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008]
Aliases: LLS; HYPB; SET2; HIF-1; HIP-1; KMT3A; HBP231; HSPC069; p231HBP
Entrez GeneID: 29072
Swissprot : Q9BYW2
WB Predicted band size: 287.6kDa
Host/Isotype : Mouse IgG1
Species Reactivity : Human
Immunogen: Purified recombinant fragment of human SETD2 (AA: 2054-2245) expressed in E. Coli.