這個基因編碼的蛋白質是組蛋白甲基轉移酶，它甲基化組蛋白H3的Lys-4位置。編碼蛋白是一種叫做抗壞血酸的大蛋白復合物的一部分，它被證明是β-珠蛋白和雌激素受體基因的轉錄調節器。這種基因的突變被證明是導致歌舞伎綜合征的原因。
The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome.