AHC has been mapped to chromosome Xp21 at the same or close to an X-linked locus involved in sex determination, DSS (for dosage-sensitive sex reversal). The gene corresponding to DSS and AHC (designated DAX-1 for DSS-AHC critical region on the X chromosome, gene 1) has been cloned and shown to be deleted in AHC deletion patients and mutated in AHC non-deletion patients. The carboxy terminal 250 amino acids of the DAX-1-encoded protein, DAX-1, exhibits approximately 50% continuous similarity to the ligand-binding domain of the members of the nuclear hormone receptor superfamily while the amino terminal domain contains a putative DNA-binding motif. DAX-1 binds to retinoic acid responsive elements and down regulates retinoic acid receptor-mediated transcriptional activation.
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Protein Aliases: AHC; AHCH; AHX; DAX-1; DAX1; DSS; DSS-AHC critical region on the X chromosome protein 1; GTD; HHG; NROB1; nuclear hormone receptor; Nuclear receptor DAX-1; nuclear receptor DAX1; Nuclear receptor subfamily 0 group B member 1; nuclear receptor subfamily 0, group B, member 1; SRXY2
Gene Aliases: AHC; AHCH; AHX; DAX-1; DAX1; DSS; GTD; HHG; NR0B1; NROB1; SRXY2
UniProt ID: (Human) P51843
Entrez Gene ID: (Human) 190