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FLASH GENE
Symbol SERPINA1 contributors: mct/npt/pgu - updated : 10-01-2015
HGNC name serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
HGNC id 8941
ASSOCIATED DISORDERS
corresponding disease(s) COPD1
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
AAT activity was decreased in amnions from cases with premature rupture of the membranes, regardless of gestational age
constitutional     --over  
in synovial membranes of patients with ankylosing spondylitis
constitutional     --low  
in preterm premature rupture of membrane (PPROM)
Susceptibility
  • to Wegener granulomatosis
  • to chronic obstructive pulmonary disease
  • to liver cancer
  • to liver disease
  • Variant & Polymorphism SNP , other
  • linkage desequilibrium
  • SNP increasing the risk of chronic obstructive pulmonary disease
  • AAT deficiency variants, besides increasing the risk of lung disease, may predispose to liver disease, particularly if associated with the common Z variant
  • Candidate gene
    Marker
  • SERPINA1 and autoantibodies against SERPINA1 may be useful serum biomarkers for early-stage breast cancer screening and diagnosis
  • Therapy target
    ANIMAL & CELL MODELS