NR5A2 Chromosome 1

Nuclear receptor subfamily 5 group A member 2
1 variant 1 Health Risk

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What This Gene Does
The protein encoded by this gene is a DNA-binding zinc finger transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear receptors. The encoded protein is involved in the expression of genes for hepatitis B virus and cholesterol biosynthesis, and may be an important regulator of embryonic development. [provided by RefSeq, Jun 2016]
Gene Info
Gene Group
Nuclear receptor subfamily 5 group A
Locus Type
gene with protein product
Location
1q32.1
Ensembl
ENSG00000116833
Associated Conditions (1)
Premature ovarian failure
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS749896579 Health Risk Conflicting classifications of pathogenicity Premature ovarian failure, Premature ovarian failure
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