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.
Genetests:
Related Diseases:
References:
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Nguyen VC et al. (1988) Assignment of the complement serine protease genes C1r and C1s to chromosome 12 region 12p13.
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Inoue N et al. (1998) Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene.
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Dragon-Durey MA et al. (2001) Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases.
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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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Kusumoto H et al. (1988) Human genes for complement components C1r and C1s in a close tail-to-tail arrangement.
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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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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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OMIM.ORG article
Omim 120580
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Orphanet article
Orphanet ID 221171
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11. |
Wikipedia article
Wikipedia EN (Complement_component_1s)
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Update: Aug. 14, 2020