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Fig. 3 | BMC Endocrine Disorders

Fig. 3

From: Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation

Fig. 3

DAX-1/NR0B1 p.Tyr378Cys mutation in silico functional analysis. a Nuclear receptor subfamily 0 group B member 1 (NR0B1) is an orphan nuclear receptor that plays a critical role in the cascade required for the development of the hypothalamic-pituitary-adrenal-gonadal axis. DAX-1/NROB1 acts as a coregulatory protein on transcriptional activity of other nuclear receptors such as NR5A1, AR, ESR1, ESR2, NR5A2, POU5F1, WT1, NANOG, and STAR through heterodimeric interactions. These receptors are predicted as NR0B1 functional partners by using String software (https://string-db.org/cgi/). b Overview of a NR0B1 homologous protein structure in ribbon presentation, in which a-helix, ß-strand, turn, random coil and other interacting molecules (such as transcriptional factors) are highlighted in blue, red, green, cyan and grey respectively. c Ribbon NR0B1 presentation highlighting the side chain (small balls) of the mutated residue Cys378 in magenta. d, e, and f different close-ups of the side chains of both the wild-type (green) and the mutant (red) residue. These D, E and F shot evidence that the wild-type and mutant amino acids differ in size, which may result in an empty space in the core of the protein, besides its change in charge and hydrophobicity valu using Hope Version 1.1.1 software [18]

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