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Literature summary for 1.14.14.19 extracted from

  • Turan, S.; Bereket, A.; Guran, T.; Akcay, T.; Papari-Zareei, M.; Auchus, R.J.
    Puberty in a case with novel 17-hydroxylase mutation and the putative role of estrogen in development of pubic hair (2009), Eur. J. Endocrinol., 160, 325-330.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
CYP17A1, DNA and amino acid sequence determination and analysis, expression of mutant R239Q in HEK-293 cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
R239Q naturally occuring mutation leading to loss of function of CYP17A1 and to enzyme deficiency resulting in failure in synthesizing cortisol, andrenal androgens, and gonadal steroids, phenotype, detailed overview Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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-
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Synonyms

Synonyms Comment Organism
17-hydroxylase/17,20-lyase
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Homo sapiens
17OHD
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Homo sapiens
CYP17A1
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Homo sapiens