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Fig. 7 | Journal of Translational Medicine

Fig. 7

From: Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 as a possible cause of severe chronic fatigue

Fig. 7

Simplified overview of synthesis of the major GABAergic neurosteroids allopregnanolone, pregnanolone and isopregnanolone. Thick green arrows indicate the pathways upregulated by the inversion, while thin, dashed, red arrows indicate pathways that may be partly inhibited. 5α-R: 5α-reductase; 5β-R: 5β-reductase; 5α-DHP: 5α-dihydroprogesterone; 5β-DHP: 5β-dihydroprogesterone; 20α-R: 20α-reductase; 20α-DHP: 20α-dihydroprogesterone; 3α-R: 3α-reductase; 3β-R: 3β-reductase. *Enzyme predicted in silico to be AKR1C1 but not yet tested in vitro [31, T. Penning, personal communication, 2023]

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