Entrez 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 endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
p450
GO Terms
steroid 21-monooxygenase activity
mineralocorticoid biosynthetic process
mineralocorticoid metabolic process
glucocorticoid biosynthetic process
glucocorticoid metabolic process
steroid binding
steroid hydroxylase activity
steroid hormone biosynthetic process
hormone biosynthetic process
cellular hormone metabolic process
steroid biosynthetic process
iron ion binding
sterol metabolic process
heme binding
hormone metabolic process
steroid metabolic process
organic hydroxy compound metabolic process
regulation of hormone levels
lipid biosynthetic process
endoplasmic reticulum membrane
oxidation-reduction process
lipid metabolic process
organic cyclic compound biosynthetic process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)
Compound Hit
No hits were found.
Most Correlated Genes in Chemogenomics
No correlation found to any other genes in chemogenomics.
Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Global Fraction of Cell Lines Where Essential: 1/739