" /> C1S wt Allele - CISMeF





Preferred Label : C1S wt Allele;

NCIt synonyms : Complement Component 1, S Subcomponent Gene; EDSPD2; Complement C1s wt Allele;

NCIt definition : Human C1S wild-type allele is located in the vicinity of 12p13.31 and is approximately 83 kb in length. This allele, which encodes complement C1s subcomponent protein, is involved in complement activation. Mutation of the gene is associated with Ehlers-Danlos syndrome periodontal type 2 and selective complement component C1s deficiency.;

NCI Metathesaurus CUI : CL1647649;

GenBank Accession Number : NM_001734;

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31/07/2025


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