Английская Википедия:Cytochrome b5 deficiency

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Шаблон:Infobox medical condition (new) Cytochrome b5 deficiency is a rare condition and form of isolated 17,20-lyase deficiency caused by deficiency in cytochrome b5, a small hemoprotein that acts as an allosteric factor to facilitate the interaction of CYP17A1 (17α-hydroxylase/17,20-lyase) with P450 oxidoreductase (POR), thereby allowing for the 17,20-lyase activity of CYP17A1.[1][2][3] The condition affects both adrenal and gonadal androgen biosynthesis and results in male pseudohermaphroditism.[1] The principal biological role of cytochrome b5 is reduction of methemoglobin, so cytochrome b5 deficiency can also result in elevated methemoglobin levels and/or methemoglobinemia, similarly to deficiency of cytochrome b5 reductase (methemoglobin reductase).[1]

References

Шаблон:Reflist

External links

Шаблон:Gonadal disorder Шаблон:Defects of steroid metabolism Шаблон:Adrenal gland disorder


Шаблон:Endocrine-disease-stub

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  1. ↑ 1,0 1,1 1,2 Шаблон:Cite book
  2. ↑ Шаблон:Cite journal
  3. ↑ Шаблон:Cite journal
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