Two genes that map to the STSL locus cause sitosterolemia:: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively
Two genes that map to the STSL locus cause sitosterolemia:: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively
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DOI：
10.1086/321294
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发表时间：
2001-08-01
影响因子：
9.8
通讯作者：
Patel, SB
中科院分区：
文献类型：
--
作者：
Lu, KM;Lee, MH;Patel, SB
谷甾醇血症是一种罕见的常染色体隐性遗传疾病，其特征为（a）肠道对所有甾醇的过度吸收，包括胆固醇和植物及贝类甾醇，和（B）将甾醇排泄到胆汁中的能力受损。患有这种疾病的患者体内胆固醇池扩大，血浆植物甾醇种类非常高，经常发生肌腱和结节性黄瘤，加速动脉粥样硬化和早发冠状动脉疾病。在以前的研究中，我们已经将STSL基因定位于人类染色体2 p21。最近，我们报道了一个新的ABC转运蛋白家族的成员，命名为“sterolin-1”和编码的ABCG 5，是突变的9个不相关的家庭与谷甾醇血症，在其余的25个家庭，没有突变sterolin-1可以确定。我们发现了另一个ABC运输机，
Sitosterolemia is a rare autosomal recessive disorder characterized by (a) intestinal hyperabsorption of all sterols, including cholesterol and plant and shellfish sterols, and (b) impaired ability to excrete sterols into bile. Patients with this disease have expanded body pools of cholesterol and very elevated plasma plant-sterol species and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis, and premature coronary artery disease. In previous studies, we have mapped the STSL locus to human chromosome 2p21. Recently, we reported that a novel member of the ABC-transporter family, named "sterolin-1" and encoded by ABCG5, is mutated in 9 unrelated families with sitosterolemia; in the remaining 25 families, no mutations in sterolin-1 could be identified. We identified another ABC transporter, located