亨廷頓病（hd）是一種以紋狀體神經元喪失為特征的神經退行性疾病，是由hd蛋白亨廷頓蛋白中的多聚谷氨酸束擴張引起的。該基因編碼一種屬于以ww基序為特征的huntingtin相互作用蛋白的蛋白質。該蛋白是一種組蛋白甲基轉移酶，對組蛋白h3的賴氨酸-36具有特異性，該殘基的甲基化與活性染色質有關。該蛋白還含有一個新的轉錄激活結構域，已被發現與高磷酸化rna聚合酶ii相關。[由RefSeq提供，2008年8月]
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]