SERPING1

(redirected from C1Inh)

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 ?
AEE occurs in association with lymphoproliferative diseases (AAE type 1) via consumption of the C1INH protein by malignant cells, and in autoimmune conditions, such as systemic lupus erythematosus (AAE type 2), caused by auto-antibodies to the C1INH protein.
However in HAE type II, 15% of patients have normal plasma C1INH levels but the protein is dysfunctional.
In patients with C1INH deficiency, C4 levels are markedly decreased although in rare cases, the C4 level is normal between attacks.
C1INH was measured by radial immunodiffusion (The Binding Site, Birmingham, UK), C1INH was assayed by functional enzyme-linked immunosorbent assay (Quidel, San Diego, CA).
All women had normal serum C4 and C1INH antigen levels, but a lowered C1INH activity.
11] Oral estrogens reduce the concentration of C1INH in patients with HAE.
The study was an open-label exploratory Phase II study of the safety and prophylactic effect of a weekly 50 U/kg rhC1INH treatment in asymptomatic patients with hereditary C1INH deficiency.
Rhucin, recombinant human C1 inhibitor (rhC1INH), is a protein, having identical amino-acid sequence as endogenous human C1INH.
To test the performance of this protocol, we selected PCR products of various lengths (157-528 bp) from: exons 13 and 12 of the LDL receptor gene (LDLR), exon 11 of the putative oncogene BRCA1, exon 8 of C1INH, and exons 10, 11, and 13A of the CFTR gene (Table 1).
The authors conclude that rhC1INH constitutes a highly effective alternative to plasma derived C1INH for the treatment of acute angioedema attacks in HAE patients, the companies said.
said, "The publication of the results from these randomized controlled trials is an important step in educating the medical community about recombinant human C1INH for HAE patients with acute angioedema.