A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20 Lyase Deficiency-Reference-Cited by-同舟云学术

A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20 Lyase Deficiency

Published:2012-03-01 Issue:3 Volume:97 Page:E465-E475
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Idkowiak Jan¹,Randell Tabitha²,Dhir Vivek¹,Patel Pushpa¹,Shackleton Cedric H. L.¹,Taylor Norman F.³,Krone Nils¹,Arlt Wiebke¹

Affiliation:

1. Centre for Endocrinology, Diabetes and Metabolism (J.I., V.D., P.P., C.H.L.S., N.K., W.A.), School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, United Kingdom

2. Department of Paediatric Endocrinology (T.R.), Nottingham Children's Hospital, Nottingham University Hospitals National Health Service Trust, Nottingham NG7 2UH, United Kingdom

3. Department of Clinical Biochemistry (N.F.T.), King's College Hospital, University of London, London SE5 9RS, United Kingdom

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/97/3/E465/20288293/jcemE465.pdf

Reference39 articles.

1. Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer.;Auchus;J Biol Chem,1998

2. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.;Flück;Nat Genet,2004

3. Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study.;Arlt;Lancet,2004

4. Cytochrome b5 stimulates purified testicular microsomal cytochrome P-450 (C21 side-chain cleavage).;Onoda;Biochem Biophys Res Commun,1982