Source:http://linkedlifedata.com/resource/umls/id/C1707172
NCI: Human CYP11A1 wild-type allele is located within 15q23-q24 and is approximately 30 kb in length. This allele, which encodes cytochrome P450 11A1, mitochondrial protein, is involved in steroid synthesis. Certain allelic variants of the CYP11A1 gene result in 17-alpha-hydroxylase/17,20-lyase deficiency. Defects in this gene cause congenital adrenal insufficiency and congenital lipoid adrenal hyperplasia.