該基因屬于herc基因家族,編碼一組異常大的蛋白質,包含多個結構域。所有成員至少有一個N-末端區域的拷貝,顯示與細胞周期調節器RCC1和在一些E3泛素蛋白連接酶中發現的C-末端HECT(與E6-AP C末端同源)域同源。該基因的遺傳變異與皮膚/頭發/眼睛色素沉著變異有關。該基因的多個假基因位于15號和16號染色體上[由RefSeq提供,2012年3月]
This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]