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This gene encodes a small heme protein that functions as a central component of the electron transport chain in mitochondria. The encoded protein associates with the inner membrane of the mitochondrion where it accepts electrons from cytochrome b and transfers them to the cytochrome oxidase complex. This protein is also involved in initiation of apoptosis. Mutations in this gene are associated with autosomal dominant nonsyndromic thrombocytopenia. Numerous processed pseudogenes of this gene are found throughout the human genome.[provided by RefSeq, Jul 2010]
[中文简述(自动翻译):]  该基因编码一个小的血红素蛋白充当线粒体电子传递链的核心组成部分。所编码的蛋白质相关联,在其中接受来自色素b电子并将它们传送到细胞色素氧化酶复合物的线粒体的内膜。这种蛋白也参与细胞凋亡的起始。在这种基因突变与常染色体显性非综合征性血小板减少症相关联。这种基因的许多加工假在整个人类基因组中找到。[由RefSeq的,2010年7月提供]
CYCS基因(以及对应的蛋白质)的细胞分布位置:
CYCS基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Thrombocytopenia 4 | 0.36 | 1 | 1 | CLINVAR_CTD_human_UNIPROT |
Thrombocytopenia | 0.127815732 | 2 | 0 | CTD_human_GAD_LHGDN |
Alzheimer's Disease | 0.12 | 1 | 1 | GWASCAT |
Brain Ischemia | 0.12 | 1 | 0 | CTD_human |
Transient Ischemic Attack | 0.12 | 1 | 0 | CTD_human |
Fatty Liver | 0.12 | 1 | 0 | CTD_human |
Ischemia | 0.12 | 1 | 0 | CTD_human |
Obesity | 0.12 | 1 | 0 | CTD_human |
Chloracne | 0.12 | 1 | 0 | CTD_human |
Methylmalonic acidemia | 0.12 | 1 | 0 | CTD_human |
Chondrosarcoma | 0.001628651 | 6 | 3 | BeFree |
Choriocarcinoma | 0.000814326 | 3 | 0 | BeFree |
Rheumatoid Arthritis | 0.000542884 | 2 | 0 | BeFree |
Pituitary Diseases | 0.000542884 | 2 | 0 | BeFree |
Anemia | 0.000271442 | 1 | 0 | BeFree |
Blood Platelet Disorders | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Thalassemia | 0.000271442 | 1 | 0 | BeFree |
Reactive systemic amyloidosis | 0.000271442 | 1 | 0 | BeFree |
Malonic aciduria | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Macular dystrophy, corneal type 1 | 0.000271442 | 1 | 0 | BeFree |
AA amyloidosis | 0.000271442 | 1 | 0 | BeFree |
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