Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The C1S gene encodes the serine protease of the complement component C1 which activates C2 and C4 to form a C3 convertase the essential part of classical complement activation. Mutations cause autosomal recessive C1s deficiency or dominant periodontal Ehlers-Danlos syndrome.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Nguyen VC et al. (1988) Assignment of the complement serine protease genes C1r and C1s to chromosome 12 region 12p13. 
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| 2. |
Inoue N et al. (1998) Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene.
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| 3. |
Dragon-Durey MA et al. (2001) Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases.
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| 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.
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| 5. |
Kusumoto H et al. (1988) Human genes for complement components C1r and C1s in a close tail-to-tail arrangement.
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| 6. |
Tosi M et al. (1987) Complete cDNA sequence of human complement Cls and close physical linkage of the homologous genes Cls and Clr.
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| 7. |
Mackinnon CM et al. (1987) Molecular cloning of cDNA for human complement component C1s. The complete amino acid sequence.
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| 8. |
NCBI article NCBI 716
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| 9. |
OMIM.ORG article Omim 120580
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| 10. |
Orphanet article Orphanet ID 221171
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| 11. |
Wikipedia article Wikipedia EN (Complement_component_1s)
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