MXI1 Chromosome 10
MAX interactor 1, dimerization protein
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What This Gene Does
Expression of the c-myc gene, which produces an oncogenic transcription factor, is tightly regulated in normal cells but is frequently deregulated in human cancers. The protein encoded by this gene is a transcriptional repressor thought to negatively regulate MYC function, and is therefore a potential tumor suppressor. This protein inhibits the transcriptional activity of MYC by competing for MAX, another basic helix-loop-helix protein that binds to MYC and is required for its function. Defects in this gene are frequently found in patients with prostate tumors. Three alternatively spliced transcripts encoding different isoforms have been described. Additional alternatively spliced transcripts may exist but the products of these transcripts have not been verified experimentally. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Basic helix-loop-helix proteins|MAX dimerization proteins"
Locus Type
gene with protein product
Location
10q25.2
Ensembl
ENSG00000119950
Associated Conditions (3)
Ovarian cancer
Prostate cancer
Neurofibrosarcoma
Key Variants
RS566461626
Conflicting classifications of pathogenicity
Ovarian cancer, Ovarian cancer
Health Risk
RS1564709391
Likely pathogenic
Ovarian cancer, Ovarian cancer
Health Risk
RS137852603
Pathogenic
Prostate cancer, Prostate cancer
Health Risk
RS137852604
Pathogenic
Neurofibrosarcoma, Neurofibrosarcoma
Health Risk
RS2496871974
Pathogenic
Prostate cancer, Prostate cancer
Health Risk
RS387906417
Pathogenic
Prostate cancer, Prostate cancer
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS566461626 | Health Risk | Conflicting classifications of pathogenicity | Ovarian cancer, Ovarian cancer |
| RS1564709391 | Health Risk | Likely pathogenic | Ovarian cancer, Ovarian cancer |
| RS137852603 | Health Risk | Pathogenic | Prostate cancer, Prostate cancer |
| RS137852604 | Health Risk | Pathogenic | Neurofibrosarcoma, Neurofibrosarcoma |
| RS2496871974 | Health Risk | Pathogenic | Prostate cancer, Prostate cancer |
| RS387906417 | Health Risk | Pathogenic | Prostate cancer, Prostate cancer |