Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Complement component C1r

The C1R gene neighbors the C1S gene in a tail-to-tail position, so gross deletions affecting both genes are possible and cause a combined C1s/C1r deficiency. Mutations also cause autosomal 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 C1r/C1s deficiency
C1R
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.

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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3.

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

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4.

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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5.

Ohi H et al. (1986) Two cases of mesangiocapillary glomerulonephritis with CR1 deficiency.

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6.

Kamboh MI et al. (1989) Genetic studies of low-abundance human plasma proteins. XIII. Population genetics of C1R complement subcomponent and description of new variants.

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7.

Lyons LA et al. (1989) Genetic studies of low-abundance human plasma proteins. XI. Linkage analysis and population genetics of the C1S subcomponent of the first complement component.

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8.

Leytus SP et al. (1986) Nucleotide sequence of the cDNA coding for human complement C1r.

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9.

Kamboh MI et al. (1986) Genetic studies of low abundance human plasma proteins. III. Polymorphism of the C1R subcomponent of the first complement component.

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10.

Journet A et al. (1986) Cloning and sequencing of full-length cDNA encoding the precursor of human complement component C1r.

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11.

Kamboh MI et al. (1988) Genetic studies of low-abundance human plasma proteins. IX. A new allele at the complement subcomponent C1R structural locus.

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12.

Orphanet article

Orphanet ID 360362 [^]
13.

NCBI article

NCBI 715 [^]
14.

OMIM.ORG article

Omim 613785 [^]
15.

Wikipedia article

Wikipedia EN (Complement_component_1r) [^]
Update: April 29, 2019