C1s ist ein Gen, das durch das Symbol C1S kodiert wird. Andere Namen sind: Complement C1s subcomponent; C1 esterase; Complement component 1 subcomponent s. C1s hat eine Masse von 76.68kDa, eine Aminosäurelänge von 688, und ist an folgenden Krankheiten beteiligt: Complement component C1s deficiency; Ehlers-Danlos syndrome, periodontal type, 2.
Wir bieten 7 antikörper gegen C1s, aufgewachsen in Kaninchen und Ziege, welche geeignet sind für WB, IHC and ELISA mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
C1s B chain is a serine protease that combines with C1q and C1r to form C1, the first component of the classical pathway of the complement system. C1r activates C1s so that it can, in turn, activate C2 and C4.
Entrez Zusammenfassung
This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency.
Rolle bei Krankheiten
Complement component C1s deficiency: A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.
Ehlers-Danlos syndrome, periodontal type, 2: A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSPD2 is characterized by the association of typical features of Ehlers-Danlos syndrome with gingival recession and severe early-onset periodontal disease, leading to premature loss of permanent teeth. EDSPD2 transmission pattern is consistent with autosomal dominant inheritance.
Sequenzähnlichkeiten
Belongs to the peptidase S1 family.
Posttranslationale Modifikation
The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.
