Figure 7.

Mutations in the human gene encoding steroid 5-reductase type 2 (SRD5A2) that cause an intersex phenotype. The SRD5A2 gene is shown as a five-exon schematic with intervening introns. Point mutations that give rise to substitutions and premature truncations in the protein are shown in panel A. Insertions, deletions, and splicing mutations that disrupt the gene are shown in panel B. Reproduced with permission from Ref. 40. This research was originally published in Genetic Steroid Disorders. D. W. Russell and J. D. Wilson. Steroid 5α-reductase 2 deficiency. Genetic Steroid Disorders. (New, M. I., Lekarev, L., Parsa, A., Yuen, T., O'Malley, B., and Hammer, G., eds), pp. 199–214. © 2013 Elsevier.