KEGG   DISEASE: カルボキシペプチダーゼN 欠損症
エントリ  
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
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 04 免疫系の疾患
  原発性免疫不全症
   4A00  自然免疫の疾患よる原発性免疫不全症
    H01136  カルボキシペプチダーゼN 欠損症
病因遺伝子 
CPN1 [HSA:1369] [KO:K01292]
リンク   
ICD-11: 4A00.1Y
MeSH: C562876
OMIM: 212070
文献    
  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
文献    
  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
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