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Literature summary for 1.1.1.64 extracted from

  • Yazawa, T.; Imamichi, Y.; Uwada, J.; Sekiguchi, T.; Mikami, D.; Kitano, T.; Ida, T.; Sato, T.; Nemoto, T.; Nagata, S.; Islam Khan, M.R.; Takahashi, S.; Ushikubi, F.; Suzuki, N.; Umezawa, A.; Taniguchi, T.
    Evaluation of 17beta-hydroxysteroid dehydrogenase activity using androgen receptor-mediated transactivation (2020), J. Steroid Biochem. Mol. Biol., 196, 105493 .
    View publication on PubMed

Application

Application Comment Organism
diagnostics evaluation of 17beta-HSD3 enzymatic activity using androgen receptor-mediated transactivation is important for understanding and diagnosing the 46,XY disorder of sexual development caused by mutations of HSD17B3 genes which results in low testosterone production. A method is adapted that easily evaluates enzymatic activity of 17beta-HSD3 by quantifying the conversion from androstenedione to trestosterone using androgen receptor-mediated transactivation Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
HEK-293 cells are transduced to express human HSD17B3. The system is also applicable to detect the conversion of 11-ketoandrostenedione to 11-ketotestosterone by HSD17B3 Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
androstenedione + NADPH + H+ Homo sapiens
-
testosterone + NADP+
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
Leydig cell 17beta-HSD type 3 (HSD17B3) is expressed almost exclusively in testicular Leydig cells Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
androstenedione + NADPH + H+
-
Homo sapiens testosterone + NADP+
-
?

Synonyms

Synonyms Comment Organism
17beta-HSD type 3
-
Homo sapiens
HSD17B3
-
Homo sapiens

Cofactor

Cofactor Comment Organism Structure
NADPH
-
Homo sapiens

General Information

General Information Comment Organism
malfunction mutations of HSD17B3 genes cause a 46,XY disorder of sexual development (46,XY DSD) as a result of low testosterone production Homo sapiens
physiological function the enzyme (HSD17B3) contributes to development of male sexual characteristics by converting androstenedione (A4) to testosterone Homo sapiens