SERPINA1


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SERPINA1

A gene on chromosome 14q32.1 that encodes a member of the serine protease inhibitor (serpin) family, whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin and plasminogen activator, the latter three of which it irreversibly inhibits. 

Molecular pathology
SERPINA1 mutations cause pulmonary emphysema and liver disease.
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References in periodicals archive ?
We identified 27 subjects as heterozygous for a rare SERPINA1 deficiency allele who had a serum AAT concentration of 0.
An overview of the relationship between particular SERPINA1 genotypes and serum AAT concentrations is presented in Table 3.
Testing appropriate subgroups of the population for genetic variants in SERPINA1 would help diminish underdiagnosis.
A very recent report from the Netherlands has addressed this point: sequence analysis of 66 DNA samples from patients with low plasma AAT revealed the presence of 10 rare M-like or Null SERPINA1 variants, including 2 Null variants previously unidentified (23).
SERPINA1 gene variants in individuals from the general population with reduced alpha-1 antitrypsin concentrations.

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