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Carboxypeptidase N is a plasma metallo-protease that cleaves basic amino acids from the C terminal of peptides and proteins. The enzyme is important in the regulation of peptides like kinins and anaphylatoxins, and has also been known as kininase-1 and anaphylatoxin inactivator. This enzyme is a tetramer comprised of two identical regulatory subunits and two identical catalytic subunits; this gene encodes the catalytic subunit. Mutations in this gene can be associated with angioedema or chronic urticaria resulting from carboxypeptidase N deficiency. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  羧N是一个等离子体金属蛋白酶从肽和蛋白质的C端裂解碱性氨基酸。酶是在像激肽和过敏毒素肽的重要的调节,并且也已经被称为激肽酶-1和过敏毒素灭活。这种酶是由两个相同的调节亚基和两个相同的催化亚基的四聚体;这个基因编码的催化亚基。在这个基因的突变可以与血管性水肿或羧缺氮所得慢性荨麻疹有关。 [由RefSeq的,2008年7月提供]
CPN1基因(以及对应的蛋白质)的细胞分布位置:
CPN1基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Carboxypeptidase N Deficiency | 0.36 | 1 | 1 | CLINVAR_CTD_human_UNIPROT |
| Hearing Loss, Partial | 0.12 | 1 | 2 | GWASCAT |
| hearing impairment | 0.12 | 1 | 2 | GWASCAT |
| Fatty Liver | 0.002367032 | 1 | 0 | GAD |
| Metabolic Syndrome X | 0.002367032 | 1 | 0 | GAD |
| Alkaline Phosphatase Adverse Event | 0.002367032 | 1 | 1 | GAD |
| Alzheimer's Disease | 0.000271442 | 1 | 0 | BeFree |
| Arthritis | 0.000271442 | 1 | 0 | BeFree |
| Adenocarcinoma of prostate | 0.000271442 | 1 | 0 | BeFree |
| Coughing | 0.000271442 | 1 | 0 | BeFree |
| Neurodegenerative Disorders | 0.000271442 | 1 | 0 | BeFree |
| Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
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