SERPING1


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SERPING1

A gene on chromosome 11q12-q13.1 that encodes a highly glycosylated plasma protein which regulates the complement cascade by inhibiting activated C1r and C1s, thereby preventing complement activation.

Molecular pathology
C1-INH/SERPING1 deficiency is associated with hereditary angioneurotic oedema (HANE).
References in periodicals archive ?
Hereditarni angioedem (HAE) je rijetka autosomno dominantna bolest nastala zbog mutacije gena SERPING1 za inhibitor plazmatskog proteina C1 (C1-INH).
koromozom (11q12-q13,1) uzerinde lokalize olan C1 inhibitor genindeki (SERPING1) mutasyonla iliskili verilere bakildiginda HAE'li olgularda 200'u askin farkli mutasyon bildirilmistir.Klasik HAE'nin tip 1 (%85) ve tip 2 (%15) olmak uzere iki ana formu bulunmaktadir.
The Southampton team discovered the mutation in a gene known as SERPING1, which is involved in the production of proteins for a system within the eye that helps clear infection.
Genetic testing for the SERPING1 gene can also be done but is usually unnecessary.