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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

COPD1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	peptide regions of SERPINA1 and ENOSF1 expression are potential serum biomarkers for gastric cancer
Therapy target

ANIMAL & CELL MODELS