" /> NR0B1 wt Allele - CISMeF





Preferred Label : NR0B1 wt Allele;

NCIt synonyms : NROB1; AHX; HHG; DAX-1; AHCH; Nuclear Receptor Subfamily 0, Group B, Member 1 Gene; Dosage-Sensitive Sex Reversal Gene; AHC; GTD; DSS; DAX1; DSS-AHC Critical Region On The X Chromosome 1 Gene; Nuclear Receptor Subfamily 0 Group B Member 1 wt Allele; SRXY2;

NCIt definition : Human NR0B1 wild-type allele is located within Xp21.3-p21.2 and is approximately 5 kb in length. This allele, which encodes nuclear receptor subfamily 0 group B member 1 protein, is involved in the regulation of both transcription and receptor-mediated signal transduction. Mutations in the gene are associated with both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. A duplication part of the short arm of the X chromosome, which contains this gene, in XY individuals is linked to dosage-sensitive sex reversal.;

GenBank Accession Number : S74720;

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31/07/2025


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