CPN1 gene

carboxypeptidase N subunit 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Protects the body from potent vasoactive and inflammatory peptides containing C-terminal Arg or Lys (such as kinins or anaphylatoxins) which are released into the circulation.

From NCBI Gene:

  • Anaphylotoxin inactivator deficiency

From UniProt:

Carboxypeptidase N deficiency (CPND): Patients affected present some combination of angioedema or chronic urticaria, as well as hay fever or asthma, and have also slightly depressed serum carboxy peptidase N, suggestive of autosomal recessive inheritance of this disorder. [MIM:212070]

Cytogenetic Location: 10q24.2, which is the long (q) arm of chromosome 10 at position 24.2

Molecular Location: base pairs 100,042,308 to 100,081,885 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q24.2, which is the long (q) arm of chromosome 10 at position 24.2
  • CPN
  • SCPN