| H01136 | |
| H番号 | H01136 |
| 名称 | カルボキシペプチダーゼN 欠損症 |
| 概要 | Carboxypeptidase N (CPN) is a plasma zinc metalloprotease that inactivates C3a, C4a, C5a, bradykinin, kalladin, and fibrinopeptides. CPN has been implicated as a major regulator of inflammation. Although deficiency of CPN produces a severe allergic syndrome, there are no reported cases of complete deficiency of CPN in humans. There are a few documented cases of partial CPN deficiency. Patients present some combination of angioedema or chronic urticaria, as well as hay fever or asthma. It has been reported that mutations in CPN1, which encodes the catalytic subunit of CPN, cause CPN deficiency. |
| カテゴリ | 免疫系疾患 |
| ネットワーク | - |
| 病因遺伝子 | CPN1 [HSA:1369] [KO:K01292] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 4A00.1Y ICD-10: D84.1 MeSH: C562876 OMIM: 212070 |
| 文献 | PMID:19414808 著者 Mueller-Ortiz SL, Wang D, Morales JE, Li L, Chang JY, Wetsel RA タイトル Targeted disruption of the gene encoding the murine small subunit of carboxypeptidase N (CPN1) causes susceptibility to C5a anaphylatoxin-mediated shock. 雑誌 J Immunol 182:6533-9 (2009) DOI:10.4049/jimmunol.0804207 PMID:12560874 著者 Cao H, Hegele RA タイトル DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiency. 雑誌 J Hum Genet 48:20-2 (2003) DOI:10.1007/s100380300003 |