NR0B1 wt Allele

**Semantic type:** Gene or Genome

**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.

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