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DAX-1 Orphan Nuclear Receptor

An orphan nuclear receptor that is implicated in regulation of steroidogenic pathways. It is unlike most orphan nuclear receptors in that it appears to lack an essential DNA-binding domain and instead acts as a transcriptional co-repressor. Mutations in the gene Dax-1 cause congenital adrenal hypoplasia.
Also Known As:
DSS-AHC Critical Region on the X Chromosome, Gene 1 Protein; NR0B1 Protein; Nuclear Receptor 0B1; Nuclear Receptor DAX-1; Nuclear Receptor NR0B1; Nuclear Receptor Subfamily 0, Group B, Member 1; DAX 1 Orphan Nuclear Receptor; DSS AHC Critical Region on the X Chromosome, Gene 1 Protein; Nuclear Receptor DAX 1
Networked: 12 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Experts

1. Chen, Ling: 1 article (02/2020)
2. Gao, Jin-Zhi: 1 article (02/2020)
3. He, Bin: 1 article (02/2020)
4. Long, Wen-Jun: 1 article (02/2020)
5. Luo, Xiao-Ping: 1 article (02/2020)
6. Wu, Shi-Min: 1 article (02/2020)
7. Bencsik, Zsuzsa: 1 article (08/2019)
8. Bertalan, Rita: 1 article (08/2019)
9. Butz, Henriett: 1 article (08/2019)
10. Mezei, Piroska: 1 article (08/2019)

Related Diseases

1. Familial Hypoadrenocorticism
05/01/2019 - "Novel mutation in the nuclear receptor subfamily 0, group B, member 1 (NR0B1) gene associated with intrafamilial heterogeneity in three boys with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism from India."
03/01/2007 - "Infantile or complex glycerol kinase deficiency (cGKD) is a contiguous gene deletion syndrome caused by a loss of GK (MIM# 300474), along with its neighboring genes, Duchenne muscular dystrophy (DMD; MIM# 300377) and/or Nuclear Receptor Subfamily 0, Group B, Member 1 (NR0B1; MIM# 300473). "
02/01/2020 - "X-linked congenital adrenal hypoplasia is characterised by the acute onset of primary adrenal insufficiency in infancy or early childhood and hypogonadotropic hypogonadism (HH) at puberty, arising from mutations of the nuclear receptor subfamily 0 group B member 1 (NR0B1) gene. "
01/01/2015 - "X-linked adrenal hypoplasia congenita is a rare cause of primary adrenal insufficiency (PAI) in children due to mutations in NR0B1/DAX1 (nuclear receptor subfamily 0, group B, member 1/dosage-sensitive sex reversal-adrenal hypoplasia congenita at the critical region of the X chromosome, gene 1). "
10/01/2009 - "X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism (AHCH) is known to be caused by coding mutations in the nuclear receptor subfamily 0, group B, member 1 (NR0B1) gene, encoding the transcriptional repressor dosage-sensitive sex-reversal adrenal hypoplasia critical region on the X chromosome protein 1 (DAX1). "
2. Dosage-sensitive sex reversal
10/01/2022 - "Adrenal hypoplasia congenita (AHC) is a rare X-linked recessive disease caused by mutations in the nuclear receptor subfamily 0, group B, member 1 (NR0B1) gene, which is also referred to as dosage-sensitive sex-reversal, adrenal hypoplasia congenita, in the critical region of the X chromosome, gene 1 (DAX1). "
08/01/2019 - "NR0B1 (nuclear receptor subfamily 0, group B, member 1) is a transcription factor encoded by DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) responsible for the development and maintenance of the steroidogenic tissues. "
10/22/2011 - "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, steroidogenic tissues (gonads, adrenals), the ventromedial hypothalamus (VMH), and pituitary gonadotropes. "
01/01/2015 - "X-linked adrenal hypoplasia congenita is a rare cause of primary adrenal insufficiency (PAI) in children due to mutations in NR0B1/DAX1 (nuclear receptor subfamily 0, group B, member 1/dosage-sensitive sex reversal-adrenal hypoplasia congenita at the critical region of the X chromosome, gene 1). "
10/01/2009 - "X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism (AHCH) is known to be caused by coding mutations in the nuclear receptor subfamily 0, group B, member 1 (NR0B1) gene, encoding the transcriptional repressor dosage-sensitive sex-reversal adrenal hypoplasia critical region on the X chromosome protein 1 (DAX1). "
3. Hypogonadism (Hypergonadotropic Hypogonadism)
4. Addison Disease (Addison's Disease)
5. Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)

Related Drugs and Biologics

1. Cytoplasmic and Nuclear Receptors (Nuclear Receptors)
2. Transcription Factors (Transcription Factor)
3. Androgen Receptors (Androgen Receptor)
4. Proteins (Proteins, Gene)
5. Cysteine (L-Cysteine)