Fig. 4: Disease-related loss-of-function mutations in HsSRD5A2 model.
From: Crystal structure of steroid reductase SRD5A reveals conserved steroid reduction mechanism
a 32 disease-related loss-of-function mutations were classified into five categories. Catalytic site residues are in magenta, NADPH-binding residues are in yellow, structural destabilizing mutations are in green, wheat, or cyan based on residue properties. b Biochemical analysis of disease-related HsSRD5A2 variants. All variants were transient expressed in HEK293T cells for 24 h. The cells were treated with [3H]-labeled T for 6 or 12 h. The collected and homogenized cell membranes were treated with [3H]-labeled T. HsSRD5A2 activities were measured by the percentage of DHT detected by HPLC. Data are mean±s.d. derived from technically independent experiments in duplicate. Each experiment was reproduced three times on separate occasions with similar results. Red stars (*) below variant labels indicate the variants in patients.
