BTN2A1 - butyrophilin subfamily 2 member A1 Gene

中文名称：嗜乳脂蛋白亚家族 2 成员 A1

种属: Homo sapiens

同用名: BTF1; BT2.1; BTN2.1; DJ3E1.1; BK14H9.1

关于 BTN2A1

功能概要

该基因编码免疫球蛋白超家族的一个成员。该基因位于 6 号染色体上主要组织相容性复合体的近端粒区域的嗜乳蛋白样基因簇中。已在该簇中鉴定出该基因的假基因。编码的蛋白质是参与脂质、脂肪酸和甾醇代谢的完整质膜蛋白。该基因的改变可能与包括代谢综合征在内的多种疾病状态有关。已为该基因发现编码不同亚型的多个可变剪接转录物变体。[RefSeq 提供，2013 年 7 月]

This gene encodes a member of the immunoglobulin superfamily. The gene is located in a cluster of butyrophilin-like genes in the juxta-telomeric region of the major histocompatibility complex on chromosome 6. A pseudogene of this gene has been identified in this cluster. The encoded protein is an integral plasma membrane protein involved in lipid, fatty-acid, and sterol metabolism. Alterations in this gene may be associated with several disease states including metabolic syndrome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]