C1R wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human C1R wild-type allele is located in the vicinity of 12p13.31 and is approximately 12 kb in length. This allele, which encodes complement C1r subcomponent protein, plays a role in the complement cascade. Mutation of the gene is associated with periodontal type Ehlers-Danlos syndrome 1.

**Synonyms:** - Complement C1r wt Allele - Complement Component 1, R Subcomponent Gene - EDS8 - EDSPD1