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References OMIM Gene GeneReviews HGMD HGNC
last update : 19-12-2012
Symbol COPD1
Location 14q32.13
Name pulmonary disease, chronic obstructive, 1
Other name(s) alpha-1-antitrypsin deficiency
Corresponding gene SERPINA1
Other symbol(s) COPD, A1ATD
Main clinical features
  • emphysema with lung destruction in the third and fourth decade with smoking as an aggravating factor
  • less frequently liver disease in children (infantile cirrhosis) and adults
  • disorder associated with reduced SERPINA1 plasma levels, predisposing adults to pulmonary emphysema
  • excessive mobilization of neutrophils into the lung
  • increased aortic stiffness suggesting increased risk of cardiovascular disease and evidence of occult musculoskeletal changes (PMID: 21138571 )
  • Genetic determination autosomal recessive
    Function/system disorder respiratory
    Type disease
    Gene product
    Name protease inhibitor (antitrypsin alpha 1)
    Gene mutationChromosome rearrangementEffectComments
    various types     most often by homozygosity for the PiZ allele
    Remark(s) . targeted gene correction of SERPINA1 deficiency in induced pluripotent stem cells (IPSCs), (potential of combining human iPSCs with genetic correction to generate clinically relevant cells for autologous cell-based therapies) (PMID: 21993621))
  • Z mutation encodes a misfolded variant of SERPINA1 that is not secreted effectively and accumulates intracellularly in the endoplasmic reticulum of hepatocytes and other SERPINA1-producing cells (PMID: 21702661))