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The protein encoded by this gene catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. Multiple transcript variants encoding different isoforms have been found for this gene. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白质催化L-乳酸和NAD的为丙酮酸和NADH在无氧糖酵解的最后步骤的转换。该蛋白在肌肉组织中主要发现,属于乳酸脱氢酶家族。在这个基因的突变已与劳力肌红蛋白尿。已发现该基因编码不同亚型的多个抄本变形。人类基因组中包含该基因的几种非转录假基因。 [由RefSeq的,2008年9月提供]
LDHA基因(以及对应的蛋白质)的细胞分布位置:
LDHA基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Lactate dehydrogenase deficiency type A | 0.24 | 0 | 0 | CTD_human_ORPHANET |
Myocardial Infarction | 0.12 | 1 | 0 | CTD_human |
Myoglobinuria | 0.12 | 1 | 0 | CTD_human |
Cardiomyopathies | 0.12 | 1 | 0 | CTD_human |
Hyperglycemia | 0.08 | 1 | 0 | RGD |
Neoplasms, Experimental | 0.08 | 1 | 0 | RGD |
Lymphoma | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Adenocarcinoma | 0.00272435 | 1 | 0 | LHGDN |
Primary Myelofibrosis | 0.00272435 | 1 | 0 | LHGDN |
Lung Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Peptic Ulcer | 0.00272435 | 1 | 0 | LHGDN |
Pleural effusion disorder | 0.00272435 | 1 | 0 | LHGDN |
Thrombocythemia, Essential | 0.00272435 | 1 | 0 | LHGDN |
Myocardial Ischemia | 0.00272435 | 1 | 0 | LHGDN |
Panic Disorder | 0.002638474 | 1 | 0 | BeFree_GAD |
Narcolepsy | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of breast | 0.001357209 | 5 | 0 | BeFree |
Pancreatic carcinoma | 0.001357209 | 5 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.001357209 | 5 | 0 | BeFree |
Carcinogenesis | 0.001357209 | 5 | 0 | BeFree |
Breast Carcinoma | 0.001357209 | 5 | 0 | BeFree |
Tumor Progression | 0.001085767 | 4 | 0 | BeFree |
Colon Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000814326 | 3 | 0 | BeFree |
Multiple Myeloma | 0.000814326 | 3 | 0 | BeFree |
Stomach Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Malignant tumor of colon | 0.000542884 | 2 | 0 | BeFree |
Chondrosarcoma | 0.000542884 | 2 | 0 | BeFree |
Diabetes Mellitus, Non-Insulin-Dependent | 0.000542884 | 2 | 0 | BeFree |
Glioma | 0.000542884 | 2 | 0 | BeFree |
Neoplasm Metastasis | 0.000542884 | 2 | 0 | BeFree |
Pancreatic Neoplasm | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000542884 | 2 | 0 | BeFree |
Prostate carcinoma | 0.000542884 | 2 | 0 | BeFree |
Mammary Neoplasms | 0.000542884 | 2 | 0 | BeFree |
Liver carcinoma | 0.000542884 | 2 | 0 | BeFree |
Autoimmune Diseases | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of thyroid | 0.000271442 | 1 | 0 | BeFree |
Cardiomyopathy, Dilated | 0.000271442 | 1 | 0 | BeFree |
Eclampsia | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
Goiter | 0.000271442 | 1 | 0 | BeFree |
Mitral Valve Insufficiency | 0.000271442 | 1 | 0 | BeFree |
Myopathy | 0.000271442 | 1 | 0 | BeFree |
Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Retinoblastoma | 0.000271442 | 1 | 0 | BeFree |
Rhabdomyosarcoma | 0.000271442 | 1 | 0 | BeFree |
Metastatic malignant neoplasm to brain | 0.000271442 | 1 | 0 | BeFree |
Anaplastic thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Papillary thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Carcinoma breast stage IV | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of esophagus | 0.000271442 | 1 | 0 | BeFree |
Conventional (Clear Cell) Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Impaired exercise tolerance | 0.000271442 | 1 | 0 | BeFree |
Thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of lymph node | 0.000271442 | 1 | 0 | BeFree |
Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of kidney | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of the head and neck | 0.000271442 | 1 | 0 | BeFree |
Renal carcinoma | 0.000271442 | 1 | 0 | BeFree |
tumor vasculature | 0.000271442 | 1 | 0 | BeFree |
Benign Prostatic Hyperplasia | 0.000271442 | 1 | 0 | BeFree |
Non-Neoplastic Disorder | 0.000271442 | 1 | 0 | BeFree |
Malformations of Cortical Development, Group II | 0.000271442 | 1 | 0 | BeFree |
PANIC DISORDER 1 | 0.000271442 | 1 | 0 | BeFree |
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