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FLASH GENE

Symbol

CYP19A1

contributors: mct/npt - updated : 22-05-2010

HGNC name	cytochrome P450, family 19, subfamily A, polypeptide 1
HGNC id	2594

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

AROD , AROE

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   four promoters (II, I.3, I.7 and I.4) markedly increasing total expression in breast cancer

Susceptibility

endometrial cancer development (A6 and A7 allele over represented) to bone mineral density variability in men to breast cancer

Variant & Polymorphism SNP , insertion/deletion	associations for five SNPs with age at menarche in Caucasian females
	common haplotype of aromatase associated with gene expression is also associated with the risk of osteoporotic vertebral fractures in postmenopausal women
	polymorphism associated with femoral neck bone mineral density in men
	3-bp I/D polymorphisms of the CYP19A1 gene may be associated with breast cancer in Korean women (Kim 2009)

Candidate gene
Marker
Therapy target	important target in endocrine therapy for estrogen receptor (ER)-positive postmenopausal breast cancer (Wang 2009)

ANIMAL & CELL MODELS