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GENATLAS PHENOTYPE

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)

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
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))