CYP7B1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CYP7B1 wild-type allele is located in the vicinity of 8q21.3 and is approximately 211 kb in length. This allele, which encodes 25-hydroxycholesterol 7-alpha-hydroxylase enzyme, is involved in cholesterol catabolism. Mutation of the gene is associated with autosomal recessive spastic paraplegia 5A and congenital bile acid synthesis defect 3.

**Synonyms:** - CBAS3 - CP7B - Cytochrome P450, Family 7, Subfamily B, Polypeptide 1 wt Allele - Cytochrome P450, Subfamily VIIB (Oxysterol 7 Alpha-Hydroxylase), Polypeptide 1 Gene - SPG5A - Spastic Paraplegia 5A (Autosomal Recessive) Gene