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The protein encoded by this gene is a transketolase that acts as a homodimer and catalyzes the conversion of sedoheptulose 7-phosphate and D-glyceraldehyde 3-phosphate to D-ribose 5-phosphate and D-xylulose 5-phosphate. This reaction links the pentose phosphate pathway with the glycolytic pathway. Variations in this gene may be the cause of Wernicke-Korsakoff syndrome. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
[中文简述(自动翻译):]  由该基因编码的蛋白质是充当同二聚体和催化景天庚酮糖-7-磷酸和D-甘油醛-3-磷酸对D-核糖5-磷酸和D-木酮糖-5-磷酸的转化一个转酮酶。该反应链接与糖酵解途径的磷酸戊糖途径。在这种基因的变化可能是韦尼克 - 科尔萨科夫综合征的病因。已发现该基因编码不同亚型三个抄本变形。 [由RefSeq的,2011年3月提供]
TKTL1基因(以及对应的蛋白质)的细胞分布位置:
TKTL1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Glioblastoma | 0.00272435 | 1 | 0 | LHGDN |
granulosa cell tumor | 0.00272435 | 1 | 0 | LHGDN |
Stomach Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Thyroid Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
Carcinogenesis | 0.000814326 | 3 | 0 | BeFree |
Colorectal Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000542884 | 2 | 0 | BeFree |
Neoplasm Metastasis | 0.000542884 | 2 | 0 | BeFree |
Recurrent tumor | 0.000542884 | 2 | 0 | BeFree |
Thyroid carcinoma | 0.000542884 | 2 | 0 | BeFree |
Stomach Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Colorectal Cancer | 0.000542884 | 2 | 0 | BeFree |
Blast Phase | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of thyroid | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cerebral Palsy | 0.000271442 | 1 | 0 | BeFree |
Malignant tumor of cervix | 0.000271442 | 1 | 0 | BeFree |
Craniofacial Dysostosis | 0.000271442 | 1 | 0 | BeFree |
Fibroid Tumor | 0.000271442 | 1 | 0 | BeFree |
Myeloid Leukemia, Chronic | 0.000271442 | 1 | 0 | BeFree |
Liver neoplasms | 0.000271442 | 1 | 0 | BeFree |
Lymphoma | 0.000271442 | 1 | 0 | BeFree |
melanoma | 0.000271442 | 1 | 0 | BeFree |
Uterine Fibroids | 0.000271442 | 1 | 0 | BeFree |
Tumor Progression | 0.000271442 | 1 | 0 | BeFree |
Germ cell tumor | 0.000271442 | 1 | 0 | BeFree |
Gastrointestinal Stromal Tumors | 0.000271442 | 1 | 0 | BeFree |
Papillary thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Solid tumour | 0.000271442 | 1 | 0 | BeFree |
Cervix carcinoma | 0.000271442 | 1 | 0 | BeFree |
Skin appendage adenoma | 0.000271442 | 1 | 0 | BeFree |
Tumor Initiation | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of lymph node | 0.000271442 | 1 | 0 | BeFree |
AICARDI-GOUTIERES SYNDROME 1 | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of the head and neck | 0.000271442 | 1 | 0 | BeFree |
Differentiated Thyroid Gland Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cancer Cell Growth | 0.000271442 | 1 | 0 | BeFree |
Xenograft Model | 0.000271442 | 1 | 0 | BeFree |
Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
Craniofacial dysostosis type 1 | 0.000271442 | 1 | 0 | BeFree |
Nasopharyngeal carcinoma | 0.000271442 | 1 | 0 | BeFree |
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