C178160Level 6
C1S wt Allele
**Semantic type:** Gene or Genome
**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.
**Synonyms:** - Complement C1s wt Allele - Complement Component 1, S Subcomponent Gene - EDSPD2
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Cross-system equivalences0
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