NCOR1 Chromosome 17
Nuclear receptor corepressor 1
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What This Gene Does
This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010]
Gene Info
Gene Group
"Myb/SANT domain containing|Protein phosphatase 1 regulatory subunits|NCoR/SMRT transcriptional repression complex subunits"
Locus Type
gene with protein product
Location
17p12-p11.2
Ensembl
ENSG00000141027
Associated Conditions (3)
Developmental delay
Hyperlaxity
Thin skin
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS751569508 | Health Risk | Likely pathogenic | Developmental delay, Hyperlaxity, Thin skin |