CYP2C8*5 Allele

**Semantic type:** Gene or Genome

**Definition:** Human CYP2C8*5 allele is located in the vicinity of 10q23.33 and is approximately 33 kb in length. This allele, a variant form of the CYP2C8 wild-type allele, encodes cytochrome P450 2C8*5 protein. The CYP2C8*5 allele exhibits a clinically-relevant single nucleotide deletion (c.475delA), resulting in a coding frameshift that is predicted to cause amino acid alterations from codon 159 and an early stop codon at residue 477. The cytochrome P450 2C8*5 protein is predicted to be enzymatically inactive since it lacks 64% of the protein coding structure, a region which includes the heme binding site and 5 out of 6 substrate recognition sites.

**Synonyms:** - CYP2C8*5 - CYP2C8, c.475delA - Cytochrome P450, Family 2, Subfamily C, Polypeptide 8*5 Allele