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This gene encodes a member of the peptidase family. The protein forms a homodimer that hydrolyzes dipeptides or tripeptides with C-terminal proline or hydroxyproline residues. The enzyme serves an important role in the recycling of proline, and may be rate limiting for the production of collagen. Mutations in this gene result in prolidase deficiency, which is characterized by the excretion of large amount of di- and tri-peptides containing proline. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
[中文简述(自动翻译):]  该基因编码的肽酶家族的一个成员。蛋白质形成了水解二肽或三肽具有C末端脯氨酸或羟脯氨酸残基的同型二聚体。酶供应脯氨酸的再循环中起重要作用,并且可以是速率限制为胶原蛋白的产生。突变在该基因导致脯氨酸肽酶缺乏症,其特征是大量的二 - 和三 - 肽含有脯氨酸的排泄。多个转录变异体的编码不同亚型也发现了这种基因。[由RefSeq的,2009年10月提供]
PEPD基因(以及对应的蛋白质)的细胞分布位置:
PEPD基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Deficiency of prolidase | 0.481900093 | 11 | 12 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
Diabetes Mellitus, Non-Insulin-Dependent | 0.245005506 | 2 | 1 | BeFree_CTD_human_GAD_GWASCAT |
Hepatomegaly | 0.12 | 1 | 0 | CTD_human |
Respiratory Tract Diseases | 0.12 | 1 | 0 | CTD_human |
Skin Ulcer | 0.12 | 1 | 0 | CTD_human |
Splenomegaly | 0.12 | 1 | 0 | CTD_human |
Organophosphate poisoning | 0.12 | 1 | 0 | CTD_human |
Infection | 0.12 | 1 | 0 | CTD_human |
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) | 0.08 | 0 | 0 | MGD |
Atrial Fibrillation | 0.00272435 | 1 | 0 | LHGDN |
Lupus Erythematosus, Systemic | 0.00272435 | 1 | 0 | LHGDN |
melanoma | 0.00272435 | 1 | 0 | LHGDN |
Mitral Valve Stenosis | 0.00272435 | 1 | 0 | LHGDN |
Pleural Tuberculosis | 0.00272435 | 1 | 0 | LHGDN |
Osteoarthritis, Knee | 0.00272435 | 1 | 0 | LHGDN |
Mammary Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Coronary Artery Disease | 0.00272435 | 1 | 0 | LHGDN |
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