NR0B1 wt Allele
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NR0B1 wt Allele 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.
NR0B1 wt Allele Synonyms
NR0B1 wt Allele, AHC, AHCH, AHX, DAX-1, DAX1, DSS, Dosage-Sensitive Sex Reversal Gene, GTD, HHG, NROB1, Nuclear Receptor Subfamily 0, Group B, Member 1 wt Allele
Terms in NR0B1 wt Allele category
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