CTBP1 Chromosome 4
C-terminal binding protein 1
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What This Gene Does
This gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during cellular proliferation. This protein and the product of a second closely related gene, CTBP2, can dimerize. Both proteins can also interact with a polycomb group protein complex which participates in regulation of gene expression during development. Alternative splicing of transcripts from this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Associated Conditions (7)
Inborn genetic diseases
Lung cancer
Hypotonia
ataxia
developmental delay
and tooth enamel defect syndrome
Intellectual disability
Key Variants
RS199614101
Conflicting classifications of pathogenicity
Health Risk
RS374755819
Conflicting classifications of pathogenicity
Inborn genetic diseases, Lung cancer, Inborn genetic diseases
Health Risk
RS750112627
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS750734000
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hypotonia, ataxia
Health Risk
RS767549924
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1731781760
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS869320802
Pathogenic
Hypotonia, ataxia, developmental delay
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199614101 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374755819 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Lung cancer, Inborn genetic diseases |
| RS750112627 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS750734000 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hypotonia, ataxia |
| RS767549924 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1731781760 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS869320802 | Health Risk | Pathogenic | Hypotonia, ataxia, developmental delay |