2024年12月25日 · NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1) is a Protein Coding gene. Diseases associated with NR5A1 include 46,Xx Sex Reversal 4 and Premature Ovarian …

The NR5A1 gene provides instructions for producing a transcription factor called the steroidogenic factor 1. Learn about this gene and related health conditions.

Nuclear receptor subfamily 5 group A member 1 (NR5A1), also named steroidogenic factor 1, is an essential transcription factor that regulates a number of target genes crucial for normal …

NR5A1 has key roles at multiple points in gonad development and steroidogenic pathways. Mutations in NR5A1 were associated with male factor infertility, especially when associated …

Mutations in NR5A1 have been reported as a frequent cause of 46,XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from infertility, …

NR5A1 gene mutations are a relatively frequent cause of 46,XY DSD in humans. Clear indications for management of these individuals remain elusive, mainly when diagnosis is made in …

This review outlines the role of NR5A1 gene during the process of gonadal development in humans, provides an overview of the molecular and functional characteristics of NR5A1 gene, …

2009年3月19日 · Mutation of NR5A1 causes 46,XY disorders of sex development, with or without adrenal failure, but growing experimental evidence from studies in mice suggests a key role for …

NR5A1 is a transcription factor belonging to the nuclear receptor superfamily. It binds the core motif AGGTCA and regulates many genes involved in reproduction, steroidogenesis, and …

NR5A1 (nuclear receptor subfamily 5 group A member 1) is a transcriptional regulator of adrenal and gonadal development and function. Heterozygous and homozygous NR5A1 mutations …