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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:

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
C1S
Periodontal Ehlers-Danlos syndrome
C1R
C1S

References:

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 external link
9.

OMIM.ORG article

Omim 120580 external link
10.

Orphanet article

Orphanet ID 221171 external link
11.

Wikipedia article

Wikipedia EN (Complement_component_1s) external link
Update: Aug. 14, 2020
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