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carboxypeptidase N deficiency
Summary
- Synonym
-
- anaphylotoxin inactivator deficiency
- deficiency of carboxypeptidase B
- 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.
- Super Class
- autosomal recessive disease plasma protein metabolism disease
External Links
- Disease Ontology
- DOID:0111583
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P15169 | Carboxypeptidase N catalytic chain |
