MXI1

Chr 10

MAX interactor 1, dimerization protein

Also known as: MAD2, MXD2, MXI, bHLHc11

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtProstate cancer
0
Active trials
15
Pubs (1 yr)
P/LP submissions
P/LP missense
0.77
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.77LOEUF
pLI 0.001
Z-score 2.29
OE 0.43 (0.250.77)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.17Z-score
OE missense 0.74 (0.630.86)
114 obs / 154.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.43 (0.250.77)
00.351.4
Missense OE?0.74 (0.630.86)
00.61.4
Synonymous OE?1.00
01.21.6
LoF obs/exp: 8 / 18.7Missense obs/exp: 114 / 154.9Syn Z: -0.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MXI1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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