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ea0029p8 | Adrenal cortex | ICEECE2012

Defining 17α-hydroxylase in zebrafish: expression pattern of two paralog genes (zCyp17a1; zCyp17a2) and comparative in vitro and in silico analysis

Parajes S. , Griffin A. , Miguel Escalada I. , Rose I. , Taylor A. , Sacco L. , Grotzinger J. , Arlt W. , Mueller F. , Krone N.

Background: Zebrafish is emerging as a comprehensive model system in endocrinology. Zebrafish synthesise steroid hormones in the interrenal (counterpart of the mammalian adrenal), gonad and brain. Data on steroidogenic pathways is patchy and steroidogenic enzymes in zebrafish have not been well characterised. Human 17α-hydroxylase (hCYP17A1) facilitates two conversion steps, 17α-hydroxylase and 17,20-lyase reactions in the adrenal and gonad. Two zCyp17a (zCyp17a1; zC...

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ea0017oc1 | Endocrinology 1 | BSPED2008

Functional and structural analysis of three novel mutations (A174E, V178D, L465P) in the CYP17A1 gene causing steroid 17-hydroxylase deficiency

Reisch N , Dhir V , Bleicken C , Lebl J , Kamrath C , Schwarz HP , Grotzinger J , Sippell WG , Riepe FG , Arlt W , Krone N

Steroid 17α-hydroxylase (CYP17A1) deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH). Both, 17-hydroxylase and 17,20-lyase reactions are catalysed by CYP17A1. Here, we analysed the structural and functional consequences of 3 novel CYP17A1 mutations found in 3 patients suffering from 17OHD. Two individuals with 46,XY DSD, presented with tall stature and one with arterial hypertension. Mutation screening of the CYP17A1 gene revealed comp...

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Endocrine Abstracts

Defining 17α-hydroxylase in zebrafish: expression pattern of two paralog genes (zCyp17a1; zCyp17a2) and comparative in vitro and in silico analysis

Functional and structural analysis of three novel mutations (A174E, V178D, L465P) in the CYP17A1 gene causing steroid 17-hydroxylase deficiency

BiosciAbstracts