MX1

Chr 21

MX dynamin like GTPase 1

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

This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that participates in the cellular antiviral response. The encoded protein is induced by type I and type II interferons and antagonizes the replication process of several different RNA and DNA viruses. There is a related gene located adjacent to this gene on chromosome 21, and there are multiple pseudogenes located in a cluster on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

OMIMResearchGenerating clinical summary…
3
Active trials
220
Pubs (1 yr)
P/LP submissions
P/LP missense
1.21
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.21LOEUF
pLI 0.000
Z-score 0.59
OE 0.89 (0.661.21)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.32Z-score
OE missense 0.95 (0.881.04)
375 obs / 392.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.89 (0.661.21)
00.351.4
Missense OE?0.95 (0.881.04)
00.61.4
Synonymous OE?0.97
01.21.6
LoF obs/exp: 29 / 32.6Missense obs/exp: 375 / 392.8Syn Z: 0.30

ClinVar Variant Classifications

0 submitted variants 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.