CYP11B1, Official Symbol CYP11B1provided by HGNC Official Full Name cytochrome P450 family 11 subfamily B member 1provided by HGNC Primary source HGNC:HGNC:2591 See related Ensembl:ENSG00000160882 MIM:610613; AllianceGenome:HGNC:2591 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FHI; CPN1; CYP11B; P450C11 Summary This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] Expression Restricted expression toward adrenal (RPKM 1098.5) See more Orthologs all