ea0013p287 | Steroids | SFEBES2007
, Ivison HE
, Taylor Norman
, Arlt Wiebke
, Cheetham Tim
The human CYP17A1 enzyme exerts two activities, 17a-hydroxylase and 17,20 lyase, catalysing key steps in human adrenal steroid biosynthesis. An in frame deletion of 3 bp in exon 1 of the CYP17A1 gene, resulting in the loss of phenylalanine in position 53 (F53del), is one of the first CYP17A1 mutations described (JBC 1989, 264:18076). Reported patients have invariably presented with severe hypokalaemic hypertension, reflecting 17α-hydoxylase deficiency, and s...