PBRM1 Chromosome 3
Polybromo 1
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What This Gene Does
This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012]
Gene Info
Gene Group
"Bromodomain containing|PBAF complex subunits"
Locus Type
gene with protein product
Location
3p21.1
Ensembl
ENSG00000163939
Associated Conditions (1)
Clear cell carcinoma of kidney
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS864321679 | Health Risk | Pathogenic | Clear cell carcinoma of kidney, Clear cell carcinoma of kidney |