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The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码的蛋白是ATP结合盒(ABC)转运超家族中的一员。 ABC蛋白质跨越预算外内和细胞膜输送各种分子。 ABC基因被分为七个不同亚科(ABC1,MDR / TAP,MRP,ALD,OABP,GCN20,白色)。这种蛋白质是白亚科的成员。由该基因用作半转运编码的蛋白质,以限制肠道吸收,促进甾醇的胆汁排泄。它是在肝脏,结肠和肠组织特异性方式表达。该基因串联排列2号染色体上,在一个头 - 头方向与家庭成员ABCG8。在这个基因的突变可有助于固醇积累和atheroschlerosis,以及患者sitosterolemia已观察到。 [由RefSeq的,2008年7月提供]
ABCG5基因(以及对应的蛋白质)的细胞分布位置:
ABCG5基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Sitosterolemia | 0.44 | 4 | 0 | CTD_human_MGD_ORPHANET_UNIPROT |
Cholelithiasis | 0.132453989 | 12 | 6 | BeFree_GAD_GWASCAT |
Cholecystolithiasis | 0.130825337 | 8 | 6 | BeFree_GAD_GWASCAT |
Coronary heart disease | 0.127372538 | 4 | 0 | BeFree_CTD_human_GAD |
Atherosclerosis | 0.126362715 | 8 | 0 | BeFree_CTD_human_GAD |
Xanthomatosis | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Lipid Metabolism, Inborn Errors | 0.12 | 1 | 0 | CTD_human |
Prostatic Neoplasms | 0.12 | 1 | 0 | CTD_human |
Dyslipidemias | 0.12 | 1 | 0 | CTD_human |
Coronary Artery Disease | 0.12 | 2 | 0 | CTD_human |
Hyperlipidemia | 0.085005506 | 4 | 0 | BeFree_GAD_RGD |
Arteriosclerosis | 0.081628651 | 7 | 0 | BeFree_RGD |
Cholestasis | 0.08 | 1 | 0 | RGD |
Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
Hypercholesterolemia | 0.02283225 | 9 | 0 | BeFree_GAD_LHGDN |
Insulin Resistance | 0.004734064 | 2 | 0 | GAD |
Cardiovascular Diseases | 0.003181358 | 4 | 0 | BeFree_GAD |
Biliary calculi | 0.00272435 | 1 | 0 | LHGDN |
Alzheimer's Disease | 0.002367032 | 1 | 0 | GAD |
Inflammation | 0.002367032 | 1 | 0 | GAD |
Weight Loss Adverse Event | 0.002367032 | 1 | 0 | GAD |
Hypercholesterolemia, Familial | 0.000542884 | 2 | 0 | BeFree |
melanoma | 0.000271442 | 1 | 0 | BeFree |
Atherosclerosis of aorta | 0.000271442 | 1 | 0 | BeFree |
stomatocytic anemia | 0.000271442 | 1 | 0 | BeFree |
Xanthoma | 0.000271442 | 1 | 0 | BeFree |
Polygenic hypercholesterolemia | 0.000271442 | 1 | 0 | BeFree |
Metabolic Syndrome X | 0.000271442 | 1 | 2 | BeFree |
Disorder of macula of retina | 0.000271442 | 1 | 0 | BeFree |
Cholesterol gallstones | 0.000271442 | 1 | 0 | BeFree |
Insulin resistance syndrome | 0.000271442 | 1 | 2 | BeFree |
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