Aliases for CYP19A1 Gene
External Ids for CYP19A1 Gene
Previous HGNC Symbols for CYP19A1 Gene
Previous GeneCards Identifiers for CYP19A1 Gene
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 catalyzes the last steps of estrogen biosynthesis. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]
GeneCards Summary for CYP19A1 Gene
CYP19A1 (Cytochrome P450 Family 19 Subfamily A Member 1) is a Protein Coding gene. Diseases associated with CYP19A1 include Aromatase Deficiency and Aromatase Excess Syndrome. Among its related pathways are Transcription_Role of VDR in regulation of genes involved in osteoporosis and Metabolism of steroid hormones. GO annotations related to this gene include iron ion binding and electron carrier activity.
UniProtKB/Swiss-Prot for CYP19A1 Gene
Catalyzes the formation of aromatic C18 estrogens from C19 androgens.
Cytochrome P450 (CYP450) enzymes are a diverse group of catalysts that contains 57 members in humans. CYPs are usually membrane-bound and are localized to the inner mitochondrial or endoplasmic reticular membrane. CYPs have oxygenase activity.