CASP8*1 Allele

**Semantic type:** Gene or Genome

**Definition:** Human CASP8*1 allele is a variant form of the CASP8 gene which is located within 2q33-q34 and is approximately 54 kb in length. The wild-type allele, which encodes caspase-8 protein, is involved in apoptosis regulation. CASP8*1 allele exhibits a SNP (c.1207G>C) that results in a D302H coding change, which may reduce the activity of the encoded protein. This variant may reduce the incidence of breast cancer in subjects who carry this allele.

**Synonyms:** - CASP8, D302H - CASP8, c. 1207G>C - Caspase 8*1 Allele - Caspase 8, Apoptosis-Related Cysteine Protease*1 Allele