RB1CC1 Chromosome 8
RB1 inducible coiled-coil 1
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What This Gene Does
The protein encoded by this gene interacts with signaling pathways to coordinately regulate cell growth, cell proliferation, apoptosis, autophagy, and cell migration. This tumor suppressor also enhances retinoblastoma 1 gene expression in cancer cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]
Gene Info
Gene Group
"Protein phosphatase 1 regulatory subunits|Autophagy related"
Locus Type
gene with protein product
Location
8q11.23
Ensembl
ENSG00000023287
Associated Conditions (1)
Familial cancer of breast
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141912810 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS151332356 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS746206314 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |