Komplement-Komponente C1s
Das gen C1S kodiert eine Serinprotease, welche die Komplementkomponenten C2 undC4 spalten und damit die C3-Konvertase des klassischen Weges der Komplementaktivierung bilden kann. Mutationen führen zum autosomal rezessiven C1s-Mangel oder dominantem parodontalem Ehlers-Danlos-Syndrom.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Nguyen VC et al. (1988) Assignment of the complement serine protease genes C1r and C1s to chromosome 12 region 12p13.
|
2. |
Inoue N et al. (1998) Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene.
|
3. |
Dragon-Durey MA et al. (2001) Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases.
|
4. |
Kapferer-Seebacher I et al. (2016) Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.
|
5. |
Kusumoto H et al. (1988) Human genes for complement components C1r and C1s in a close tail-to-tail arrangement.
|
6. |
Tosi M et al. (1987) Complete cDNA sequence of human complement Cls and close physical linkage of the homologous genes Cls and Clr.
|
7. |
Mackinnon CM et al. (1987) Molecular cloning of cDNA for human complement component C1s. The complete amino acid sequence.
|
8. |
NCBI article
NCBI 716
|
9. |
OMIM.ORG article
Omim 120580
|
10. |
Orphanet article
Orphanet ID 221171
|
Update: 14. August 2020