Family

Nuclear receptor subfamily 0 group B member 1 (IPR033544)

Short name: NR0B1

Family relationships

Description

NR0B1 (also known as DAX-1) is an orphan nuclear receptor involved in the development and maintenance of the steroid hormone pathway. It also plays a role in the development of the embryo and maintenance of pluripotent embryonic stem cells [PMID: 16146703]. Mutations of the DAX-1 gene cause X-linked adrenal hypoplasia congenita (XL-AHC), a developmental disorder of the adrenal gland that results in profound hormonal deficiencies and is lethal if untreated [PMID: 7990958].

GO terms

Biological Process

GO:0030325 adrenal gland development

Molecular Function

No terms assigned in this category.

Cellular Component

No terms assigned in this category.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER