Hydroxysteroid 11-beta dehydrogenase 1 (HSD11B1) short-chain dehydrogenase/reductase superfamily and anchors on the endoplasmic reticulum (ER) membrane. It comprises a hydrophobic N terminus and a catalytic domain. The HSD11B1 gene is mapped to human chromosome location 1q32.2.
Immunogen
Synthetic peptide directed towards the N terminal region of human HSD11B1
Biochem/physiol Actions
Mutation in the hydroxysteroid 11-β dehydrogenase 1 (HSD11B1) gene is implicated in cortisone reductase deficiency.
Sequence
Synthetic peptide located within the following region: QKVVSHCLELGAASAHYIAGTMEDMTFAEQFVAQAGKLMGGLDMLILNHI
Physical form
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
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In cortisone reductase deficiency (CRD), activation of cortisone to cortisol does not occur, resulting in adrenocorticotropin-mediated androgen excess and a phenotype resembling polycystic ovary syndrome (PCOS; refs. 1,2). This suggests a defect in the gene HSD11B1 encoding 11beta-hydroxysteroid dehydrogenase type
11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1) interconverts inactive cortisone and active cortisol. Although bidirectional, in vivo it is believed to function as a reductase generating active glucocorticoid at a prereceptor level, enhancing glucocorticoid receptor activation. In this review, we discuss both
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