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This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluconeogenesis. Mutations in this gene are associated with triosephosphate isomerase deficiency. Pseudogenes have been identified on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
[中文简述(自动翻译):]  该基因编码一种酶,它由两个相同的蛋白质,其催化在糖酵解和糖异生-3-磷酸(G3P)和二羟基丙酮磷酸(DHAP)甘油的异构化的。在这种基因突变与磷酸丙糖异构酶缺乏有关。假基因已被确定在6染色体1,4,并在多个转录变异体7选择性剪接的结果。 [由RefSeq的,2009年4月提供]
TPI1基因(以及对应的蛋白质)的细胞分布位置:
TPI1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Triosephosphate Isomerase Deficiency | 0.24 | 3 | 8 | CLINVAR_UNIPROT |
Anemia, Hemolytic | 0.121628651 | 7 | 0 | BeFree_CTD_human |
Triose phosphate isomerase deficiency | 0.120542884 | 2 | 0 | BeFree_ORPHANET |
Alzheimer's Disease | 0.12 | 1 | 0 | CTD_human |
Anemia, Hemolytic, Congenital Nonspherocytic | 0.12 | 1 | 0 | CTD_human |
Squamous cell carcinoma | 0.12 | 1 | 0 | CTD_human |
Inborn Errors of Metabolism | 0.12 | 2 | 0 | CTD_human |
Mouth Neoplasms | 0.12 | 1 | 0 | CTD_human |
Neuromuscular Diseases | 0.12 | 1 | 0 | CTD_human |
Osteoporosis | 0.12 | 1 | 0 | CTD_human |
Squamous cell carcinoma of esophagus | 0.12 | 1 | 0 | CTD_human |
Neuromuscular Manifestations | 0.12 | 2 | 0 | CTD_human |
Giardiasis | 0.004614512 | 17 | 0 | BeFree |
melanoma | 0.003267234 | 2 | 0 | BeFree_LHGDN |
Degenerative polyarthritis | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Multiple Sclerosis | 0.00272435 | 1 | 0 | LHGDN |
Malaria | 0.002367032 | 1 | 0 | GAD |
Asthma | 0.002171535 | 8 | 0 | BeFree |
Cyst | 0.001085767 | 4 | 0 | BeFree |
nervous system disorder | 0.001085767 | 4 | 0 | BeFree |
Lupus Erythematosus, Systemic | 0.000814326 | 3 | 0 | BeFree |
Neurologic Symptoms | 0.000814326 | 3 | 0 | BeFree |
Enzymopathy | 0.000814326 | 3 | 0 | BeFree |
Adenocarcinoma | 0.000542884 | 2 | 0 | BeFree |
Colorectal Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Glioma | 0.000542884 | 2 | 0 | BeFree |
Metabolic Diseases | 0.000542884 | 2 | 0 | BeFree |
Neoplasm Metastasis | 0.000542884 | 2 | 0 | BeFree |
Chagas Disease | 0.000542884 | 2 | 0 | BeFree |
Malnutrition | 0.000542884 | 2 | 0 | BeFree |
Coinfection | 0.000542884 | 2 | 0 | BeFree |
Multisystem disorder | 0.000542884 | 2 | 0 | BeFree |
Mammary Neoplasms | 0.000542884 | 2 | 0 | BeFree |
Colorectal Cancer | 0.000542884 | 2 | 0 | BeFree |
Anemia, Hemolytic, Congenital | 0.000271442 | 1 | 0 | BeFree |
Autoimmune Diseases | 0.000271442 | 1 | 0 | BeFree |
Dyskinetic syndrome | 0.000271442 | 1 | 0 | BeFree |
Myeloid Leukemia, Chronic | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
Obesity | 0.000271442 | 1 | 0 | BeFree |
Pseudorabies | 0.000271442 | 1 | 0 | BeFree |
Schizophrenia | 0.000271442 | 1 | 0 | BeFree |
Tumor Progression | 0.000271442 | 1 | 0 | BeFree |
Uveal melanoma | 0.000271442 | 1 | 0 | BeFree |
Psychiatric symptom | 0.000271442 | 1 | 0 | BeFree |
Abnormal involuntary movement | 0.000271442 | 1 | 0 | BeFree |
Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
MOHR-TRANEBJAERG SYNDROME | 0.000271442 | 1 | 0 | BeFree |
Tumor Immunity | 0.000271442 | 1 | 0 | BeFree |
Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
Allergic disposition | 0.000271442 | 1 | 0 | BeFree |
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