46, XY sex reversal 3; SRXY3

Disease ID:8
Name:46, XY sex reversal 3; SRXY3
Associated with:1 target
Synonyms
46,XY complete gonadal dysgenesis | 46 XY gonadal dysgenesis | 46,XY partial gonadal dysgenesis
Database Links
Disease Ontology: DOID:14448
OMIM: 612965
Orphanet: ORPHA242, ORPHA251510

Targets

Steroidogenic factor 1
Role:  In cases with adrenal failure, two mutations (heterozygous 2-bp GGC-to-GAA (G35E) in exon 3 and a G-to-A transition in exon 4 [arg92-to-gln (R92Q) amino acid change]) affect the DNA Binding Domain of the SF-1 receptor.
In cases without adrenal failure an 8-bp microdeletion of SF1, that causes premature termination upstream of sequences encoding the activation function-2 domain. Initial cell transfection experiments demonstrate that the mutated protein possessed no intrinsic transcriptional activity but rather inhibited the function of the wildtype protein in most cell types.
References:  1-2
Mutations:  Steroidogenic factor 1 is associated with 3 mutation. Click here for details

Ligands

No ligand related data available for 46, XY sex reversal 3; SRXY3

References

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1. Achermann JC, Ozisik G, Ito M, Orun UA, Harmanci K, Gurakan B, Jameson JL. (2002) Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. J. Clin. Endocrinol. Metab., 87 (4): 1829-33. [PMID:11932325]

2. Correa RV, Domenice S, Bingham NC, Billerbeck AE, Rainey WE, Parker KL, Mendonca BB. (2004) A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency. J. Clin. Endocrinol. Metab., 89 (4): 1767-72. [PMID:15070943]