Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Gene Review:

C1QA - complement component 1, q subcomponent, A...

Homo sapiens

Synonyms: Complement C1q subcomponent subunit A

Racila, D.M. et al.

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Disease relevance of C1QA

Homozygous single nucleotide polymorphism of the complement C1QA gene is associated with decreased levels of C1q in patients with subacute cutaneous lupus erythematosus [1].

High impact information on C1QA

We report an association between a non-familial form of photosensitive Lupus-specific skin disease, subacute cutaneous lupus erythematosus (SCLE), and a new single nucleotide polymorphism (SNP) in the C1QA gene [1].
This SNP consists of adenine replacing the third guanine in the codon for aminoacid residue Gly70 (position excludes the 22 amino acid leading peptide) that is located in the second exon of the C1QA gene [1].

References

Homozygous single nucleotide polymorphism of the complement C1QA gene is associated with decreased levels of C1q in patients with subacute cutaneous lupus erythematosus. Racila, D.M., Sontheimer, C.J., Sheffield, A., Wisnieski, J.J., Racila, E., Sontheimer, R.D. Lupus (2003) [Pubmed]

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