CYP11B1

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]

Description

Cytochrome P450 family 11 subfamily B member 1

Tissue specificity

Tissue enriched (adrenal gland)

Subcell location

Mitochondria

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Protein evidence (Kim et al 2014)

Chromosome

8 (142872356 - 142879846)

Ensembl ID

ENSG00000160882  (ver. 103.38)

Orthologs

-

UniProt

P15538

neXtProt

NX_P15538

Human splice variants

Protein structure