Abstract Search

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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ea0029p9 | Adrenal cortex | ICEECE2012

Progressive adrenal insufficiency in a patient with 46,XY DSD caused by two novel mutations in the cytochrome P450 side-chain cleavage (CYP11A1) gene

Parajes S. , But B. , Chan A. , Rose I. , Taylor A. , Griffin A. , Dhir V. , Arlt W. , Krone N.

Background: Cytochrome P450 side-chain cleavage enzyme (CYP11A1) catalyses the first and rate-limiting step of steroidogenesis. CYP11A1 firstly converts cholesterol into 22R-hydroxycholesterol, which relies on mitochondrial steroidogenic acute regulatory protein (StAR)-mediated cholesterol import. Two further StAR-independent CYP11A1 reactions facilitate pregnenolone biosynthesis. CYP11A1 deficiency is rare and manifests with adrenal insufficiency (AI), and, in 46,XY individua...

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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

Progressive adrenal insufficiency in a patient with 46,XY DSD caused by two novel mutations in the cytochrome P450 side-chain cleavage (CYP11A1) gene

BiosciAbstracts