GSDMC

Chr 8

gasdermin C

Also known as: MLZE

NCBI Gene: 56169ENSG00000147697UniProt: Q9BYG8OMIM: 608384

Enables wide pore channel activity. Involved in pyroptotic inflammatory response. Located in cytoplasm. Is active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
30
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.25
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.25LOEUF
pLI 0.000
Z-score 0.58
OE 0.88 (0.62–1.25)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.51Z-score
OE missense 1.09 (0.99–1.20)
286 obs / 262.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.88 (0.62–1.25)
0≤0.351.4
Missense OE?1.09 (0.99–1.20)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 22 / 25.1Missense obs/exp: 286 / 262.6Syn Z: -0.13

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GSDMC · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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