Description: Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 1, mRNA. RefSeq Summary (NM_031226): 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]. Transcript (Including UTRs) Position: hg19 chr15:51,514,546-51,630,795 Size: 116,250 Total Exon Count: 7 Strand: - Coding Region Position: hg19 chr15:51,514,547-51,535,109 Size: 20,563 Coding Exon Count: 4
adult male height Ellis JA et al. 2001, Significant population variation in adult male height associated with the Y chromosome and the aromatase gene., The Journal of clinical endocrinology and metabolism. 2001 Sep;86(9):4147-50.
[PubMed 11549641]
Amyloid beta-Peptides Mi-Ryung Han et al. BMC neurology 2011, , BMC neurology.
[PubMed 20932310]
Our genome-wide association analysis identified several SNPs as important factors for CSF biomarker. We also provide new evidence for additional candidate genetic risk factors from pathway analysis that can be tested in further studies.
aromatase excess syndrome Stratakis CA et al. 1998, The aromatase excess syndrome is associated with feminization of both sexes and autosomal dominant transmission of aberrant P450 aromatase gene transcription., The Journal of clinical endocrinology and metabolism. 1998 Apr;83(4):1348-57.
[PubMed 9543166]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8IYJ7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.