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:
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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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
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13. |
NCBI article
NCBI 715
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14. |
OMIM.ORG article
Omim 613785
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15. |
Wikipedia article
Wikipedia EN (Complement_component_1r)
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Update: Aug. 14, 2020