Defective CYP19A1 does not convert ANDST to E1

Stable Identifier
R-HSA-5601849
Type
Reaction [transition]
Species
Homo sapiens
Compartment
cytosol, endoplasmic reticulum membrane
ReviewStatus
5/5
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Defective CYP19A1 does not convert ANDST to E1
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Aromatase (CYP19A1) catalyses the conversion of androstenedione (ANDST) to estrone (E1). Defects in CYP19A1 can cause aromatase excess syndrome (AEXS; MIM:139300) and aromatase deficiency (AROD; MIM:613546). Affected individuals cannot synthesise endogenous estrogens. In females the lack of estrogen leads to pseudohermaphroditism and progressive virilization at puberty, whereas in males pubertal development is normal. Mutations causing AEXS include C437Y, R375C, R365Q and E210K (Ito et al. 1993, Morishima et al. 1995, Carani et al. 1997, Maffei et al. 2004).
Literature References
PubMed ID Title Journal Year
8265607 Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries

Ito, Y, Fisher, CR, Conte, FA, Grumbach, MM, Simpson, ER

Proc. Natl. Acad. Sci. U.S.A. 1993
14715828 Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: effects of testosterone, alendronate, and estradiol treatment

Maffei, L, Murata, Y, Rochira, V, Tubert, G, Aranda, C, Vazquez, M, Clyne, CD, Davis, S, Simpson, ER, Carani, C

J. Clin. Endocrinol. Metab. 2004
9211678 Effect of testosterone and estradiol in a man with aromatase deficiency

Carani, C, Qin, K, Simoni, M, Faustini-Fustini, M, Serpente, S, Boyd, J, Korach, KS, Simpson, ER

N. Engl. J. Med. 1997
8530621 Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens

Morishima, A, Grumbach, MM, Simpson, ER, Fisher, C, Qin, K

J. Clin. Endocrinol. Metab. 1995
Participants
Input
Participates
as an event of
Catalyst Activity

steroid hydroxylase activity of CYP19A1 mutants [endoplasmic reticulum membrane]

Physical Entity
CYP19A1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Activity
steroid hydroxylase activity (GO:0008395)
Normal reaction
CYP19A1 hydroxylates ANDST to E1 (Homo sapiens)
Functional status

Loss of function of CYP19A1 mutants [endoplasmic reticulum membrane]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
pseudohermaphroditism DOID:3765 Indeterminate sex and pseudohermaphroditism, Indeterminate sex and pseudohermaphroditism (disorder), Pseudohermaphroditism (disorder), pseudohermaphroditism, Indeterminate sex or pseudohermaphroditism NOS (disorder)
Cross References
Mondo
Authored
Jassal, B  (2014-06-13)
Reviewed
Nakaki, T  (2014-11-03)
Created
Jassal, B  (2014-06-13)
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