基因名：
SETD2
产品别名：
HBP231； HIF-1； HIP-1； HSPC069； HYPB； KMT3A； LLS； SET2； p231HBP； SETD2； SET domain containing 2, histone lysine methyltransferase； SET domain containing 2, histone lysine methyltransferase； histone-lysine N-methyltransferase SETD2； huntingtin interacting protein 1； huntingtin yeast partner B； huntingtin-interacting protein B； lysine N-methyltransferase 3A； protein-lysine N-methyltransferase SETD2； 组蛋白赖氨酸N-甲基转移酶3A；
背景信息：
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]
