NR2C1 Chromosome 12
Nuclear receptor subfamily 2 group C member 1
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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
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1592778920 | Health Risk | Likely pathogenic | Flexion contracture, Flexion contracture |