CAG46692.1
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UniProt Primary Accession #
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UniProt Related Accession #
NCBI Official Full Name
HSD17B3
NCBI Official Synonym Full Names
hydroxysteroid (17-beta) dehydrogenase 3
NCBI Protein Information
testosterone 17-beta-dehydrogenase 3; 17-beta-HSD3; 17-beta-HSD 3; 17-beta-hydroxysteroid dehydrogenase type 3; testicular 17-beta-hydroxysteroid dehydrogenase; short chain dehydrogenase/reductase family 12C, member 2
UniProt Protein Name
HSD17B3 protein
UniProt Entry Name
Q6FH62_HUMAN
NCBI Summary for HSD17B3
This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008]
UniProt Comments for HSD17B3
HSD17B3: Favors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes use NADH. Defects in HSD17B3 are the cause of male pseudohermaphrodism with gynecomastia (MPH). These individuals have unambiguous female external genitalia at birth, but fail to menstruate at the time of expected puberty and instead virilize as evidenced by growth of the phallus. Breast development may or may not take place. Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily.
Protein type: Oxidoreductase; Lipid Metabolism - androgen and estrogen; EC 1.1.1.64
Chromosomal Location of Human Ortholog: 9q22
Cellular Component: endoplasmic reticulum membrane; intracellular membrane-bound organelle
Molecular Function: testosterone 17-beta-dehydrogenase (NADP+) activity
Biological Process: steroid metabolic process; male genitalia development; androgen biosynthetic process
Disease: 17-beta Hydroxysteroid Dehydrogenase Iii Deficiency
Research Articles on HSD17B3
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Pathways associated with anti-HSD17B3 antibody
Diseases associated with anti-HSD17B3 antibody
Organs/Tissues associated with anti-HSD17B3 antibody
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