About   Help   FAQ
Disease Ontology Browser
carboxypeptidase N deficiency (DOID:0111583)
Alliance: disease page
Synonyms: anaphylotoxin inactivator deficiency; deficiency of carboxypeptidase B
Alt IDs: OMIM:212070, MESH:C562876, NCI:C132196, UMLS_CUI:C0398782
Definition: A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in the CPN1 gene on chromosome 10q24.2.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory