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The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. [provided by RefSeq, Feb 2012]
[中文简述(自动翻译):] 该基因编码的蛋白是参与脂质和甘油脂代谢线粒体膜蛋白。所编码的蛋白质是脂质激酶催化的磷脂和溶血磷脂酸的形成。该基因缺陷已与[按RefSeq的,2012年2月提供]线粒体DNA耗竭综合征10相关联
AGK基因(以及对应的蛋白质)的细胞分布位置:
AGK基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Cataract and cardiomyopathy | 0.361085767 | 4 | 4 | BeFree_CLINVAR_CTD_human_ORPHANET |
CATARACT 38 | 0.12 | 0 | 0 | CLINVAR |
Malignant neoplasm of breast | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000542884 | 2 | 0 | BeFree |
Prostate carcinoma | 0.000542884 | 2 | 0 | BeFree |
Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Congenital cataract | 0.000271442 | 1 | 0 | BeFree |
HIV Infections | 0.000271442 | 1 | 0 | BeFree |
Cataract | 0.000271442 | 1 | 0 | BeFree |
Triglyceride storage disease with ichthyosis | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of esophagus | 0.000271442 | 1 | 0 | BeFree |
3-Methylglutaconic aciduria type 2 | 0.000271442 | 1 | 0 | BeFree |
Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Cardiomyopathies | 0.000271442 | 1 | 0 | BeFree |
Non-Neoplastic Disorder | 0.000271442 | 1 | 0 | BeFree |
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