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FLASH GENE

Symbol

HSD17B1

contributors: mct - updated : 19-05-2009

HGNC name	hydroxysteroid (17-beta) dehydrogenase 1
HGNC id	5210

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

HAPOD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   may contribute to hypothalamic obesity constitutional     --over   increase in the fetal expression could contribute to the development of hormonal imbalances, and so result in female masculinization tumoral   amplification     showed lower breast cancer survival in postmenopausal breast cancer than patients without amplification

Susceptibility

to breast cancer

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

over-expression of human HSD17B1 in transgenic mice results in masculinized phenotype in female mice and in addition to the Müllerian ducts, HSD17B1TG females have internal structures resembling Wolffian ducts, and enlarged Skene paraurethral gland, also called the female prostate