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 ?
All subjects were typed for the Z and S SERPINA1 gene variants by PCR-RFLP, as described (11).
The distribution of SERPINA1 genotypes detected in the current cross-sectional genotype-phenotype correlation study of 1399 SAPALDIA subjects with a serum AAT concentration [less than or equal to] 1.
213]; 145 samples carried varying combinations of different SERPINA1 normal variants (see Supplemental Table 3 in the online Data Supplement).
Genotyping by direct sequencing of the coding regions of the SERPINA1 gene may be considered in cases in which the presence of a null allele or another uncommon allele is suspected but not identified by either S/Z genotyping or phenotyping assays (9).
Gene-targeted therapies using adeno-associated virus containing the SERPINA1 gene may be treatment options in the future, but currently their applications are limited because they do not repair liver tissue damaged by the accumulation of dysfunctional protein (11).

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