CPN1 Chromosome 10
Carboxypeptidase N subunit 1
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What This Gene Does
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]
Gene Info
Gene Group
M14 carboxypeptidases
Locus Type
gene with protein product
Location
10q24.2
Ensembl
ENSG00000120054
Associated Conditions (1)
Anaphylotoxin inactivator deficiency
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2493413630 | Health Risk | Pathogenic | Anaphylotoxin inactivator deficiency, Anaphylotoxin inactivator deficiency |