CYP27A1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CYP27A1 wild-type allele is located within 2q35 and is approximately 34 kb in length. This allele, which encodes sterol 26-hydroxylase, mitochondrial protein, plays a role in bile synthesis and cholesterol homeostasis. Mutations in CYP27A1 are associated with cerebrotendinous xanthomatosis.

**Synonyms:** - CP27 - CTX - CYP27 - Cytochrome P450, Family 27, Subfamily A, Polypeptide 1 wt Allele