DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) is a nuclear receptor protein that in humans is encoded by the NR0B1 gene (nuclear receptor subfamily 0, group B, member 1).

DAX1 was initially identified as part of a contiguous gene syndrome and is known to function in the proper formation of the adult adrenal gland. It has been hypothesized that DAX1 is responsible for the establishment and maintenance of the steroidogenic axis of development.

The NR0B1 gene provides instructions for making a protein called DAX1. Learn about this gene and related health conditions.

DAX1 (locus: Xp21.2) encodes a nuclear receptor required for testis, ovary, adrenal, and gonadotroph differentiation. DAX1 duplications result in dosage-sensitive sex reversal by antagonizing SOX9 expression, leading to 46,XY testicular dysgenesis, ovarian development, and female or ambiguous external genitalia. Associated phenotypes also ...

2005年9月1日 · Here, we review DAX1/Dax1 known functional roles and the recently hypothesized function in the development of the embryo and in the maintenance of embryonic stem cell pluripotency. The adrenal glands in humans are paired endocrine organs composed of cortex and medulla, which have distinctly different origins in embryogenesis.

DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1; also known as NROB1, nuclear receptor subfamily 0, group B, member 1) encodes a nuclear receptor that is expressed in embryonic stem (ES) cells, ...

2020年10月12日 · 重要的是，Dax1为Nanog低水平mESCs自我更新所必需。此外，研究人员还报告称Dax1通过直接抑制Gata6转录阻止了ExEn定型。Dax1有可能独立或作为Oct4的下游效应因子介导抑制了滋养外胚层分化。中科博生。

DAX1 (dosage sensitive sex reversal (DSS), adrenal hypoplasia congenita (AHC) critical region on the X chromosome, gene 1) encoded by the gene NR0B1, is an unusual orphan nuclear receptor that when mutated causes AHC with associated hypogonadotropic hypogonadism (HH), and when duplicated causes DSS. …

2004年9月1日 · DAX1 (dosage sensitive sex reversal (DSS), adrenal hypoplasia congenita (AHC) critical region on the X chromosome, gene 1) encoded by the gene NR0B1, is an unusual orphan nuclear receptor that when mutated causes AHC with associated hypogonadotropic hypogonadism (HH), and when duplicated causes DSS. …

DAX1基因是1994年克隆出来的孤核受体家族的成员，其主要参与下丘脑-垂体-肾上腺轴/性腺轴的功能，近年来有研究发现该基因在胚胎干细胞以及肿瘤的发生过程中也发挥着重要作用。 DAX1基因突变可引起X染色体连锁的先天性肾上腺发育不良（Adrenal Hypoplasia Congenita，AHC）和低促性腺激素性性发育不全（HH），目前对其引起HH的机制仍不是很清楚。 本课题组通过对近年来收集的该类患者的突变基因进行功能研究，发现DAX1正向调控与生殖密切相关的下丘脑促性 …