MYOZ1

Chr 10

myozenin 1

Also known as: CS-2, FATZ, MYOZ

NCBI Gene: 58529ENSG00000177791UniProt: Q9NP98OMIM: 605603

The protein encoded by this gene is primarily expressed in the skeletal muscle, and belongs to the myozenin family. Members of this family function as calcineurin-interacting proteins that help tether calcineurin to the sarcomere of cardiac and skeletal muscle. They play an important role in modulation of calcineurin signaling. [provided by RefSeq, Apr 2012]

OMIMResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.21
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.21LOEUF
pLI 0.000
Z-score 1.02
OE 0.69 (0.42–1.21)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.05Z-score
OE missense 0.99 (0.87–1.13)
170 obs / 171.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.69 (0.42–1.21)
0≤0.351.4
Missense OE?0.99 (0.87–1.13)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 9 / 13.0Missense obs/exp: 170 / 171.7Syn Z: 0.61

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MYOZ1 · 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