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Information about Serpina.
This subsection of the Names and taxonomy section provides information on the name(sof the organism that is the source of the protein sequence.
AffiliationPulmonary DivisionUniversity Hospital of ZurichZurichSwitzerland.
Abnormal alpha-1 antitrypsin proteins may bind together to form a large moleculeor polymerthat cannot leave the liverThe accumulation of these polymers results in liver damageIn additionlung tissue is destroyed because not enough alpha-1 antitrypsin is available to protect against neutrophil elastasePolymers of alpha-1 antitrypsin may also contribute to excessive inflammationwhich may explain some of the other features of alpha-1 antitrypsin deficiencysuch as a skin condition called panniculitis.
Many SERPINA1 gene mutations change single protein building blocksamino acidsin alpha-1 antitrypsinwhich alters the protein’s structureThe most common mutation that causes alpha-1 antitrypsin deficiency replaces the amino acid glutamic acid with the amino acid lysine at protein position 342written as Glu342Lys or E342KThis mutation results in a version of the SERPINA1 gene called the Z allele that produces very little alpha-1 antitrypsin.
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