Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Complement component C1s

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

Related Diseases:

Complement component C1s deficiency
Periodontal Ehlers-Danlos syndrome



Nguyen VC et al. (1988) Assignment of the complement serine protease genes C1r and C1s to chromosome 12 region 12p13.

external link

Inoue N et al. (1998) Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene.

external link

Dragon-Durey MA et al. (2001) Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases.

external link

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.

external link

Kusumoto H et al. (1988) Human genes for complement components C1r and C1s in a close tail-to-tail arrangement.

external link

Tosi M et al. (1987) Complete cDNA sequence of human complement Cls and close physical linkage of the homologous genes Cls and Clr.

external link

Mackinnon CM et al. (1987) Molecular cloning of cDNA for human complement component C1s. The complete amino acid sequence.

external link

NCBI article

NCBI 716 external link

OMIM.ORG article

Omim 120580 external link

Orphanet article

Orphanet ID 221171 external link

Wikipedia article

Wikipedia EN (Complement_component_1s) external link
Update: Aug. 14, 2020
Copyright © 2005-2021 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits