MXI1 Chromosome 10

MAX interactor 1, dimerization protein
6 variants 6 Health Risk

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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
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
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