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The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. Defects in this gene are a cause of coenzyme Q10 deficiency.[provided by RefSeq, Oct 2009]
[中文简述(自动翻译):]  由该基因编码的蛋白质是合成辅酶Q,或泛醌,在呼吸链中的关键要素之一的异戊二烯基侧链的酶。的基因产物催化全反式聚异戊二烯焦磷酸盐从异戊基二磷酸的聚类异戊二烯侧链,在辅酶Q生物合成的第一个步骤的组件的形成。在这个基因的缺陷是辅酶Q10不足的原因。[通过的RefSeq,2009年10月提供]
PDSS2基因(以及对应的蛋白质)的细胞分布位置:
PDSS2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
COENZYME Q10 DEFICIENCY, PRIMARY, 3 | 0.24 | 1 | 2 | CLINVAR_UNIPROT |
COENZYME Q10 DEFICIENCY, PRIMARY, 1 | 0.2 | 0 | 0 | CTD_human_MGD |
Kidney Failure, Chronic | 0.002367032 | 1 | 0 | GAD |
Nephrotic Syndrome | 0.002367032 | 1 | 0 | GAD |
Secondary malignant neoplasm of lymph node | 0.000814326 | 3 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of lung | 0.000542884 | 2 | 0 | BeFree |
Carcinoma of lung | 0.000542884 | 2 | 0 | BeFree |
Stomach Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Liver carcinoma | 0.000542884 | 2 | 0 | BeFree |
Focal glomerulosclerosis | 0.000271442 | 1 | 0 | BeFree |
Hepatitis, Chronic | 0.000271442 | 1 | 0 | BeFree |
Kidney Diseases | 0.000271442 | 1 | 0 | BeFree |
Leigh Disease | 0.000271442 | 1 | 0 | BeFree |
Liver Cirrhosis | 0.000271442 | 1 | 0 | BeFree |
melanoma | 0.000271442 | 1 | 0 | BeFree |
Parkinson Disease | 0.000271442 | 1 | 0 | BeFree |
Renal glomerular disease | 0.000271442 | 1 | 0 | BeFree |
Segmental glomerulosclerosis | 0.000271442 | 1 | 0 | BeFree |
Cirrhosis | 0.000271442 | 1 | 0 | BeFree |
COENZYME Q10 DEFICIENCY | 0.000271442 | 1 | 0 | BeFree |
Parkinson Disease, Familial, Type 1 | 0.000271442 | 1 | 0 | BeFree |
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