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Aliases for CYP19A1 Gene

Aliases for CYP19A1 Gene

  • Cytochrome P450 Family 19 Subfamily A Member 1 2 3 5
  • Cytochrome P450, Subfamily XIX (Aromatization Of Androgens) 2 3
  • Cytochrome P450, Family 19, Subfamily A, Polypeptide 1 2 3
  • Cytochrome P-450AROM 3 4
  • Cytochrome P450 19A1 3 4
  • Estrogen Synthase 3 4
  • CYPXIX 3 4
  • CYP19 3 4
  • ARO1 3 4
  • CYAR 3 4
  • Flavoprotein-Linked Monooxygenase 3
  • Microsomal Monooxygenase 3
  • Estrogen Synthetase 3
  • EC 4
  • EC 58
  • P-450AROM 3
  • Aromatase 3
  • CPV1 3
  • ARO 3

External Ids for CYP19A1 Gene

Previous HGNC Symbols for CYP19A1 Gene

  • CYP19

Previous GeneCards Identifiers for CYP19A1 Gene

  • GC15M044547
  • GC15M049080
  • GC15M049217
  • GC15M049288
  • GC15M051500
  • GC15M028330

Summaries for CYP19A1 Gene

Entrez Gene Summary 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 Ovarian steroidogenesis and Metabolism. 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.

Tocris Summary for CYP19A1 Gene

  • 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.

Gene Wiki entry for CYP19A1 Gene

Additional gene information for CYP19A1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP19A1 Gene

Genomics for CYP19A1 Gene

Regulatory Elements for CYP19A1 Gene

Enhancers for CYP19A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H051314 1.4 FANTOM5 ENCODE dbSUPER 45.5 +23.0 22976 3 ELF3 MLX ARID4B DMAP1 RAD21 ZSCAN9 RARA CREM THAP11 HMG20B CYP19A1 GLDN GNB5 AP4E1 ENSG00000259306 MIR7973-2
GH15H051311 1.4 Ensembl ENCODE dbSUPER 11.4 +26.2 26160 2.2 FOXA2 ATF1 DMAP1 SLC30A9 FOS ATF7 SP5 MIER2 PPARG KAT8 GLDN CYP19A1 PIR34141 MIR7973-1 GC15P051332
GH15H051381 1.4 Ensembl ENCODE dbSUPER 10.7 -42.7 -42727 0.3 PKNOX1 ATF1 RB1 KLF17 RAD21 YY1 ZNF207 ZNF143 FOS RUNX3 CYP19A1 GLDN ENSG00000259194 ENSG00000259678
GH15H051365 1.3 Ensembl ENCODE dbSUPER 11.3 -29.5 -29533 4.4 CTCF FOXA2 NFIB CEBPG BATF E2F1 ZFHX2 GATA3 FOS NFE2 GLDN CYP19A1 ENSG00000259668 LYSMD2 ENSG00000259194 ENSG00000259678
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CYP19A1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CYP19A1 Gene

Genomic Locations for CYP19A1 Gene
130,554 bases
Minus strand

Genomic View for CYP19A1 Gene

Genes around CYP19A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP19A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP19A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP19A1 Gene

Proteins for CYP19A1 Gene

  • Protein details for CYP19A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q16731
    • Q3B764
    • Q58FA0
    • Q8IYJ7

    Protein attributes for CYP19A1 Gene

    503 amino acids
    Molecular mass:
    57883 Da
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CYP19A1 Gene

    Alternative splice isoforms for CYP19A1 Gene


neXtProt entry for CYP19A1 Gene

Selected DME Specific Peptides for CYP19A1 Gene


Post-translational modifications for CYP19A1 Gene

  • Phosphorylated in vitro by PKA and PKG/PRKG1. These phosphorylations inhibit the catalytic activity as measured by estrone synthesis from androstenedione (36% decrease for PKA and 30% for PKG/PRKG1).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for CYP19A1 Gene

Gene Families for CYP19A1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CYP19A1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the cytochrome P450 family.
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP19A1: view

Function for CYP19A1 Gene

Molecular function for CYP19A1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.46 uM for androstenedione {ECO:0000269 PubMed:27702664};
UniProtKB/Swiss-Prot CatalyticActivity:
Testosterone + 3 [reduced NADPH--hemoprotein reductase] + 3 O(2) = 17-beta-estradiol + formate + 4 H(2)O + 3 [oxidized NADPH--hemoprotein reductase].
UniProtKB/Swiss-Prot CatalyticActivity:
Androst-4-ene-3,17-dione + 3 [reduced NADPH--hemoprotein reductase] + 3 O(2) = estrone + formate + 4 H(2)O + 3 [oxidized NADPH--hemoprotein reductase].
UniProtKB/Swiss-Prot Function:
Catalyzes the formation of aromatic C18 estrogens from C19 androgens.

Enzyme Numbers (IUBMB) for CYP19A1 Gene

Phenotypes From GWAS Catalog for CYP19A1 Gene

Gene Ontology (GO) - Molecular Function for CYP19A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity IEA --
GO:0005506 iron ion binding IEA --
GO:0008395 steroid hydroxylase activity TAS --
GO:0009055 electron carrier activity TAS 2848247
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with CYP19A1: view
genes like me logo Genes that share phenotypes with CYP19A1: view

Human Phenotype Ontology for CYP19A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYP19A1 Gene

MGI Knock Outs for CYP19A1:

Animal Model Products

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for CYP19A1 Gene

Localization for CYP19A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP19A1 Gene

Membrane; Peripheral membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP19A1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 2
extracellular 2
mitochondrion 2
peroxisome 2
nucleus 2
cytosol 2
cytoskeleton 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CYP19A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane TAS,IEA 2848247
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CYP19A1: view

Pathways & Interactions for CYP19A1 Gene

genes like me logo Genes that share pathways with CYP19A1: view

Interacting Proteins for CYP19A1 Gene

SIGNOR curated interactions for CYP19A1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CYP19A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002677 negative regulation of chronic inflammatory response IEA --
GO:0006694 steroid biosynthetic process TAS 2848247
GO:0006703 estrogen biosynthetic process TAS --
GO:0006710 androgen catabolic process IDA 26482249
GO:0008209 androgen metabolic process IEA --
genes like me logo Genes that share ontologies with CYP19A1: view

Drugs & Compounds for CYP19A1 Gene

(144) Drugs for CYP19A1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Anastrozole Approved, Investigational Pharma Biomarker, inhibitor, Target, Enzyme Aromatase inhibitor, Aromatase Inhibitors, Hormone therapy 290
Exemestane Approved, Investigational Pharma inhibitor, Target, Enzyme Steroidal aromatase inhibitor,selective and irreversible 228
Letrozole Approved, Investigational Pharma Biomarker, inhibitor, Target, Enzyme, antagonist, substrate Non-steroidal aromatase inhibitor, Aromatase Inhibitors 413
Aminoglutethimide Approved Pharma inhibitor, Target 2
Bifonazole Approved Pharma Enzyme, inhibitor 4

(71) Additional Compounds for CYP19A1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 11,12,15-TriHETRE
  • 11,12,15-Trihydroxyicosatrienoate
  • 11,12,15-Trihydroxyicosatrienoic acid
  • 11,12,15S-Trihydroxy-5Z,8Z,13E-eicosatrienoate
  • 11,12,15S-Trihydroxy-5Z,8Z,13E-eicosatrienoic acid
11,12-Epoxyeicosatrienoic acid
  • (5Z,8Z,14Z)-11,12-Epoxyeicosa-5,8,14-trienoate
  • (5Z,8Z,14Z)-11,12-Epoxyeicosa-5,8,14-trienoic acid
  • (5Z,8Z,14Z)-11,12-Epoxyicosa-5,8,14-trienoate
  • (5Z,8Z,14Z)-11,12-Epoxyicosa-5,8,14-trienoic acid
  • 10-(3-(2-Octenyl)oxiranyl)-5,8-Decadienoate
  • (5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoate
  • (5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoic acid
  • (5Z,8Z,12E)-11,14,15-Trihydroxyicosa-5,8,12-trienoate
  • (5Z,8Z,12E)-11,14,15-Trihydroxyicosa-5,8,12-trienoic acid
  • 11,14,15-Trihydroxy-5Z,8Z,12E-eicosatrienoate
  • (5Z,8Z,12E)-14,15-Epoxy-11-hydroxyeicosa-5,8,12-trienoate
  • (5Z,8Z,12E)-14,15-Epoxy-11-hydroxyeicosa-5,8,12-trienoic acid
  • (5Z,8Z,12E)-14,15-Epoxy-11-hydroxyicosa-5,8,12-trienoate
  • (5Z,8Z,12E)-14,15-Epoxy-11-hydroxyicosa-5,8,12-trienoic acid
  • 11-Hydroxy-14,15-EETA
  • (+/-)-12(13)-epoxy-9Z-octadecenoate
  • (+/-)-12(13)-epoxy-9Z-octadecenoic acid
  • (9Z)-11-(3-pentyloxiran-2-yl)undec-9-enoate
  • (9Z)-11-(3-pentyloxiran-2-yl)undec-9-enoic acid
  • (9Z)-12,13-epoxyoctadecenoate

(5) Tocris Compounds for CYP19A1 Gene

Compound Action Cas Number
Anastrozole Potent aromatase (CYP19) inhibitor 120511-73-1
Exemestane Steroidal aromatase (CYP19) inhibitor 107868-30-4
Ketoconazole Cytochrome P450c17 inhibitor 65277-42-1
TMS Cytochrome P450 1B1 inhibitor 24144-92-1
YM 511 Potent aromatase (CYP19) inhibitor 148869-05-0

(6) ApexBio Compounds for CYP19A1 Gene

Compound Action Cas Number
Aminoglutethimide 125-84-8
Anastrozole Aromatase inhibitor 120511-73-1
Bifonazole 60628-96-8
Exemestane Steroidal aromatase inhibitor,selective and irreversible 107868-30-4
Formestane Type I steroidal aromatase inhibitor 566-48-3
Letrozole Non-steroidal aromatase inhibitor 112809-51-5
genes like me logo Genes that share compounds with CYP19A1: view

Drug Products

Transcripts for CYP19A1 Gene

Unigene Clusters for CYP19A1 Gene

Cytochrome P450, family 19, subfamily A, polypeptide 1:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP19A1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^
SP1: - - -
SP2: - -
SP3: - - - - -
SP4: -
SP5: - - - - - - - - -
SP6: - - -
SP7: - - - - - - -
SP9: - - - - -
SP10: - - -
SP12: - -

ExUns: 17

Relevant External Links for CYP19A1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CYP19A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYP19A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYP19A1 Gene

This gene is overexpressed in Nerve - Tibial (x5.2), Adipose - Subcutaneous (x4.5), and Whole Blood (x4.2).

Protein differential expression in normal tissues from HIPED for CYP19A1 Gene

This gene is overexpressed in Placenta (65.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CYP19A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CYP19A1 Gene:


SOURCE GeneReport for Unigene cluster for CYP19A1 Gene:


mRNA Expression by UniProt/SwissProt for CYP19A1 Gene:

Tissue specificity: Widely expressed, including in adult and fetal brain, placenta, skin fibroblasts, adipose tissue and gonads.

Evidence on tissue expression from TISSUES for CYP19A1 Gene

  • Nervous system(2.6)
  • Adrenal gland(2.5)
  • Liver(2.5)
  • Blood(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP19A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeleton
Head and neck:
  • brain
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • skull
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with CYP19A1: view

No data available for Protein tissue co-expression partners for CYP19A1 Gene

Orthologs for CYP19A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYP19A1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CYP19A1 33 34
  • 99.8 (n)
(Canis familiaris)
Mammalia CYP19A1 33 34
  • 87.98 (n)
(Bos Taurus)
Mammalia CYP19A1 33 34
  • 86.39 (n)
(Mus musculus)
Mammalia Cyp19a1 33 16 34
  • 81.38 (n)
(Monodelphis domestica)
Mammalia CYP19A1 34
  • 81 (a)
(Rattus norvegicus)
Mammalia Cyp19a1 33
  • 80.32 (n)
(Ornithorhynchus anatinus)
Mammalia CYP19A1 34
  • 75 (a)
(Gallus gallus)
Aves CYP19A1 33 34
  • 71.75 (n)
(Anolis carolinensis)
Reptilia CYP19A1 34
  • 72 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cyp19a1 33
  • 68.69 (n)
African clawed frog
(Xenopus laevis)
Amphibia p450arom-A 33
(Danio rerio)
Actinopterygii cyp19a1b 33 34
  • 61.63 (n)
cyp19a1a 34
  • 49 (a)
-- 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.29 33
fruit fly
(Drosophila melanogaster)
Insecta Cyp310a1 34
  • 15 (a)
Species where no ortholog for CYP19A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CYP19A1 Gene

Gene Tree for CYP19A1 (if available)
Gene Tree for CYP19A1 (if available)

Paralogs for CYP19A1 Gene

No data available for Paralogs for CYP19A1 Gene

Variants for CYP19A1 Gene

Sequence variations from dbSNP and Humsavar for CYP19A1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs121434534 Pathogenic, Aromatase deficiency (AROD) [MIM:613546] 51,211,017(-) GGCCC(C/T)GTGGC reference, missense
rs121434536 Pathogenic, Aromatase deficiency (AROD) [MIM:613546] 51,212,460(-) TCATG(C/T)GCAAA reference, missense
rs765057534 Aromatase deficiency (AROD) [MIM:613546] 51,222,402(+) CACGA(C/T)GCAGA reference, missense
rs78310315 Pathogenic, Aromatase deficiency (AROD) [MIM:613546] 51,211,010(+) CTGCA(C/T)AGCCA reference, missense
rs80051519 Pathogenic, Aromatase deficiency (AROD) [MIM:613546] 51,212,489(+) GGTAC(C/T)GCATG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CYP19A1 Gene

Variant ID Type Subtype PubMed ID
nsv9265 CNV loss 18304495
nsv471243 CNV gain 18288195
nsv1134446 CNV deletion 24896259
nsv1047443 CNV gain 25217958
esv3636465 CNV loss 21293372
esv3636461 CNV gain 21293372
esv34532 CNV gain 17911159
esv2760031 CNV gain 17122850
esv2675752 CNV deletion 23128226
esv2674047 CNV deletion 23128226
esv25817 CNV loss 19812545
esv2433892 CNV deletion 19546169
esv1648684 CNV insertion 17803354
dgv4526n54 CNV gain 21841781

Variation tolerance for CYP19A1 Gene

Residual Variation Intolerance Score: 23.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.55; 77.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYP19A1 Gene

Human Gene Mutation Database (HGMD)
The Human Cytochrome P450 Allele Nomenclature Database
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP19A1 Gene

Disorders for CYP19A1 Gene

MalaCards: The human disease database

(64) MalaCards diseases for CYP19A1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
aromatase deficiency
  • congenital estrogen deficiency
aromatase excess syndrome
  • aexs
estrogen excess
  • hyperestrogenism
uterine disease
  • uterine diseases
- elite association - COSMIC cancer census association via MalaCards


  • Aromatase deficiency (AROD) [MIM:613546]: A rare disease in which fetal androgens are not converted into estrogens due to placental aromatase deficiency. Thus, pregnant women exhibit a hirsutism, which spontaneously resolves after post-partum. At birth, female babies present with pseudohermaphroditism due to virilization of extern genital organs. In adult females, manifestations include delay of puberty, breast hypoplasia and primary amenorrhoea with multicystic ovaries. {ECO:0000269 PubMed:24705274, ECO:0000269 PubMed:8265607, ECO:0000269 PubMed:8530621, ECO:0000269 PubMed:9211678}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Aromatase excess syndrome (AEXS) [MIM:139300]: An autosomal dominant disorder characterized by increased extraglandular aromatization of steroids that presents with heterosexual precocity in males and isosexual precocity in females. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CYP19A1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CYP19A1: view

No data available for Genatlas for CYP19A1 Gene

Publications for CYP19A1 Gene

  1. CYP19 (aromatase) haplotypes and endometrial cancer risk. (PMID: 15800924) Paynter RA … De Vivo I (International journal of cancer 2005) 3 22 25 45 60
  2. Functional genetic polymorphisms in the aromatase gene CYP19 vary the response of breast cancer patients to neoadjuvant therapy with aromatase inhibitors. (PMID: 20048079) Wang L … Ingle JN (Cancer research 2010) 3 22 45 60
  3. A polymorphism at the 3'-UTR region of the aromatase gene defines a subgroup of postmenopausal breast cancer patients with poor response to neoadjuvant letrozole. (PMID: 20144226) Garcia-Casado Z … Lopez-Guerrero JA (BMC cancer 2010) 3 22 45 60
  4. Genetic variation in sex-steroid receptors and synthesizing enzymes and colorectal cancer risk in women. (PMID: 20148360) Lin J … Cook NR (Cancer causes & control : CCC 2010) 3 22 45 60
  5. Structural basis for androgen specificity and oestrogen synthesis in human aromatase. (PMID: 19129847) Ghosh D … Pangborn W (Nature 2009) 3 4 22 60

Products for CYP19A1 Gene

Sources for CYP19A1 Gene

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