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NR0B1

Official Full Name
nuclear receptor subfamily 0, group B, member 1
Background
This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism.
Synonyms
NR0B1; nuclear receptor subfamily 0, group B, member 1; AHC, dosage sensitive sex reversal , DSS; nuclear receptor subfamily 0 group B member 1; AHCH; DAX1; nuclear receptor DAX1; nuclear receptor DAX-1; nuclear hormone receptor; DSS-AHC critical region; DSS-AHC critical region on the X chromosome protein 1; AHC; AHX; DSS; GTD; HHG; DAX-1; NROB1; SRXY2; adrenal hyoplasia protein DAX1; DAX

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