CPN1 Chromosome 10

Carboxypeptidase N subunit 1
1 variant 1 Health Risk

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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
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