MX1

Chr 21

MX dynamin like GTPase 1

Also known as: IFI-78K, IFI78, MX, MxA, lncMX1-215

NCBI Gene: 4599ENSG00000157601UniProt: P20591

The MX1 protein is an interferon-induced GTPase that provides antiviral defense against RNA and DNA viruses by binding and inactivating viral ribonucleocapsids and blocking viral replication processes. Mutations in MX1 cause autosomal recessive primary immunodeficiency with increased susceptibility to viral infections, particularly orthomyxoviruses. This represents a rare form of inborn error of immunity affecting the interferon pathway.

Summary from RefSeq, UniProt
Research Assistant →
3
Active trials
147
Pubs (1 yr)
80
P/LP submissions
0%
P/LP missense
—
LOEUF
DN
Mechanism· predicted
Clinical Summary— MX1
📋
ClinVar Variants
75 unique Pathogenic / Likely Pathogenic· 100 VUS of 220 total submissions
💊
Clinical Trials
3 active or recruiting trials — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →
Some data sources returned errors (1)

gnomad: Error: An unknown error occurred

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

DN
0.7034th %ile
GOF
0.6248th %ile
LOF
0.3065th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

220 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic73
Likely Pathogenic2
VUS100
Likely Benign8
Benign5
73
Pathogenic
2
Likely Pathogenic
100
VUS
8
Likely Benign
5
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
73
0
73
Likely Pathogenic
0
0
2
0
2
VUS
0
93
7
0
100
Likely Benign
0
3
1
4
8
Benign
0
1
2
2
5
Total097856188

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MX1 · protein map & ClinVar variants

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

Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Knockout of the antiviral genes mx1 or mx3 modulates the expression of paralogous genes in a salmonid cell line.
Chaumont L et al.·Fish Shellfish Immunol
2026
Evaluating the Diagnostic Potential of Myxovirus Resistance Protein 1 (MX1) and Myxovirus Resistance Protein 2 (MX2) As Biomarkers in Idiopathic Inflammatory Myopathies.
Neupane R et al.·Cureus
2026Open Access
MX1 is a novel crucial prognostic and therapeutic target inducing chemoresistance in right-sided colon cancer: insights from machine learning-based multi-omics analysis.
Hou Y et al.·Hum Genomics
2025Open Access
Human MX1 orchestrates the cytoplasmic sequestration of neosynthesized influenza A virus vRNPs.
McKellar J et al.·Proc Natl Acad Sci U S A
2025
Interferon-induced GTP-binding protein MX1 drives hyperexcitability in peripheral nerves: a novel mechanism in small fiber neuropathy.
Chan ACY et al.·J Neuroinflammation
2025Open AccessFunctional
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients