NCIt synonyms : POF7; FTZ1; FTZF1; SF-1; SF1; AD4BP; ELP; Nuclear Receptor Subfamily 5 Group A Member 1 wt Allele; Embryonal LTR-Binding Protein Gene; SRXX4; hSF-1; Fushi Tarazu Factor, Drosophila, Homolog 1 Gene; SPGF8; Nuclear Receptor Subfamily 5, Group A, Member 1 Gene; SRXY3;
NCIt definition : Human NR5A1 wild-type allele is located in the vicinity of 9q33 and is approximately
26 kb in length. This allele, which encodes steroidogenic factor 1 protein, is involved
in the activation of transcription for genes that are associated with steroid processing.
Mutations in the gene are a factor in both XY sex reversal with or without adrenal
failure and adrenocortical insufficiency without ovarian defect.;
OMIM relation