SERPINA 1 gene

SERPINA 1 gene

A 12.2 Kb gene on the long arm of chromosome 14. It is organized into four coding and three non-coding exons. There are more than 100 alleles designated A to Z. Individuals with the ZZ phenotype are homozygous for the Z allele and will have severe alpha 1 antitrypsin deficiency with an increased risk of emphysema.