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 …

This protein is encoded by the NR5A1 gene, a member of the nuclear receptor subfamily, located on the long arm of chromosome 9 at position 33.3. It was originally identified as a regulator of …

NR5A1 gene variants have been identified in people with 46,XY disorder of sex development, also known as partial gonadal dysgenesis. Affected individuals may have external genitalia that do …

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 …

类固醇生成因子(sf-1，nr5a1)是在性腺及肾上腺发育过程中起关键调控作用的转录因子。 NR5A1基因突变是性发育异常(disorders of sex development，DSD)常见病因之一，目前临床报道的病 …

We confirmed that the variant disrupts the SF1 protein and its ability to bind and regulate downstream genes. NR5A1 has key roles at multiple points in gonad development and …

该基因编码的蛋白质是参与性别决定的转录激活因子。 编码的蛋白质作为单体结合 DNA。 该基因的缺陷是 XY 性逆转伴或不伴肾上腺功能衰竭以及无卵巢缺陷的肾上腺皮质功能不全的原因。 …

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, …

Nuclear receptor subfamily 5 group A member 1 (NR5A1) encodes steroidogenic factor 1 (SF1), a key regulatory factor that determines gonadal development and coordinates endocrine …

2024年3月5日 · Clinical resource with information about NR5A1, 46,XX sex reversal 4, 46,XY sex reversal 3, Premature ovarian failure 7, Spermatogenic failure 8, and available tests. There are …