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Cytochrome b5 deficiency

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Cytochrome b5 deficiency

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Cytochrome b5 deficiency
Specialty	Endocrinology

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. The condition affects both adrenal and gonadal androgen biosynthesis and results in male pseudohermaphroditism. 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).

External links

Online Mendelian Inheritance in Man (OMIM): 250790 – Methemoglobinemia due to deficiency of cytochrome b₅

Enzymatic	5α-Reductase 2 deficiency 17β-Hydroxysteroid dehydrogenase deficiency Aromatase excess syndrome
Androgen receptor	Androgen insensitivity syndrome Mild androgen insensitivity syndrome Partial androgen insensitivity syndrome Complete androgen insensitivity syndrome Familial male-limited precocious puberty
Other	Sertoli cell-only syndrome

General

To androgens	17α-Hydroxylase deficiency 17,20-Lyase deficiency Cytochrome b₅ deficiency 3β-Hydroxysteroid dehydrogenase deficiency 17β-Hydroxysteroid dehydrogenase deficiency 5α-Reductase 2 deficiency Pseudovaginal perineoscrotal hypospadias
To estrogens	Aromatase deficiency Aromatase excess syndrome

Other