NR2C1 Chromosome 12

Nuclear receptor subfamily 2 group C member 1
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a nuclear hormone receptor characterized by a highly conserved DNA binding domain (DBD), a variable hinge region, and a carboxy-terminal ligand binding domain (LBD) that is typical for all members of the steroid/thyroid hormone receptor superfamily. This protein also belongs to a large family of ligand-inducible transcription factors that regulate gene expression by binding to specific DNA sequences within promoters of target genes. Multiple alternatively spliced transcript variants have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Nuclear receptor subfamily 2 group C
Locus Type
gene with protein product
Location
12q22
Ensembl
ENSG00000120798
Associated Conditions (1)
Flexion contracture
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1592778920 Health Risk Likely pathogenic Flexion contracture, Flexion contracture
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