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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MYOZ1
myozenin 1
Chromosome 10 · 10q22.2
NCBI Gene: 58529Ensembl: ENSG00000177791.13HGNC: HGNC:13752UniProt: Q9NP98
31PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingactinin bindingFATZ bindingmolecular condensate scaffold activityatrial fibrillationSplit hand-split foot malformationisolated congenital digital clubbingextensor tendons of finger anomalies
✦AI Summary

MYOZ1 (myozenin 1) is a Z-disk protein that functions as an intracellular scaffold linking key sarcomeric proteins including alpha-actinin, telethonin, and LDB3, while serving as a negative regulator of calcineurin signaling 1. The protein plays critical roles in sarcomere organization, myofibril assembly, and skeletal muscle tissue development [GO annotations]. MYOZ1 expression is significantly regulated by genetic variation at the chromosome 10 locus; risk alleles associated with atrial fibrillation (AF) are consistently associated with decreased MYOZ1 expression in atrial tissue 234. Genome-wide association analysis identified MYOZ1 as a causative gene at this AF susceptibility locus, with the risk allele rs3740293 associated with reduced expression in both left and right atria 23. Recent evidence demonstrates that AF-associated genetic variants alter MYOZ1 expression through regulatory SNPs, potentially contributing to AF pathogenesis via effects on calcineurin signaling 4. In muscle regeneration contexts, MYOZ1 upregulation is associated with improved functional recovery 5. Conversely, mutations in MYOZ1 are infrequently found in dilated cardiomyopathy, suggesting limited direct monogenic involvement 6. MYOZ1 expression is downregulated during muscle culture and atrophy 7. These findings establish MYOZ1 as a sarcomeric scaffold protein with important roles in cardiac electrical function and muscle homeostasis.

Sources cited
1
MYOZ1 is implicated in cardiac development and heart failure pathogenesis through GWAS analysis
PMID: 31919418
2
SNP rs3740293 is associated with MYOZ1 expression in both left and right atrial tissues; MYOZ1 is identified as the causative gene at chromosome 10q22 AF locus
PMID: 24177373
3
AF risk allele is associated with decreased MYOZ1 expression; rs11000728 is proposed as a regulatory SNP for MYOZ1; MYOZ1 localizes to the sarcomere
PMID: 39408638
4
AF risk alleles are associated with decreased MYOZ1 expression (0.39 fold) in right atrial appendage tissue with high statistical significance
PMID: 26073630
5
MYOZ1 mutations are infrequently found in idiopathic dilated cardiomyopathy and do not play significant roles in DCM etiology
PMID: 17254821
6
MYOZ1 is among the most downregulated genes in cultured myotubes compared to skeletal muscle tissue
PMID: 20175888
7
MYOZ1 expression is upregulated during muscle regeneration in stress urinary incontinence treatment
PMID: 40998795
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.29Weak
Split hand-split foot malformationOpen Targets
0.08Suggestive
isolated congenital digital clubbingOpen Targets
0.07Suggestive
extensor tendons of finger anomaliesOpen Targets
0.07Suggestive
polydactyly of a triphalangeal thumbOpen Targets
0.07Suggestive
postaxial tetramelic oligodactylyOpen Targets
0.07Suggestive
tetramelic monodactylyOpen Targets
0.07Suggestive
hypertrophic cardiomyopathyOpen Targets
0.07Suggestive
Ectrodactyly - polydactylyOpen Targets
0.06Suggestive
ectrodactyly-polydactyly syndromeOpen Targets
0.06Suggestive
brachydactyly-syndactyly syndromeOpen Targets
0.06Suggestive
syndactyly type 1Open Targets
0.06Suggestive
PolysyndactylyOpen Targets
0.06Suggestive
polysyndactyly 4Open Targets
0.06Suggestive
Distal myopathy, Nonaka typeOpen Targets
0.05Suggestive
syndactyly type 4Open Targets
0.05Suggestive
triphalangeal thumb-polysyndactyly syndromeOpen Targets
0.05Suggestive
Hallux varus - preaxial polysyndactylyOpen Targets
0.05Suggestive
hallux varus-preaxial polysyndactyly syndromeOpen Targets
0.05Suggestive
Triphalangeal thumb - polysyndactyly syndromeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CALML4Protein interaction100%CALML5Protein interaction100%CALML3Protein interaction100%CALML6Protein interaction100%ACTN1Protein interaction99%ACTN2Protein interaction99%
Tissue Expression6 tissues
Lung
100%
Brain
52%
Heart
49%
Ovary
23%
Liver
11%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
MYOZ1CALML4CALML5CALML3CALML6ACTN1ACTN2
PROTEIN STRUCTURE
Preparing viewer…
PDB7A8T · 2.69 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.00LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.69 [0.48–1.00]
RankingsWhere MYOZ1 stands among ~20K protein-coding genes
  • #11,751of 20,598
    Most Researched31
  • #9,598of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedMYOZ1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure.
PMID: 31919418
Nat Commun · 2020
1.00
2
Gene expression and genetic variation in human atria.
PMID: 24177373
Heart Rhythm · 2014
0.90
3
Transcriptomic Insights into the Atrial Fibrillation Susceptibility Locus near the
PMID: 39408638
Int J Mol Sci · 2024
0.80
4
Mutations in PDLIM3 and MYOZ1 encoding myocyte Z line proteins are infrequently found in idiopathic dilated cardiomyopathy.
PMID: 17254821
Mol Genet Metab · 2007
0.70
5
Comparative gene expression profiling between human cultured myotubes and skeletal muscle tissue.
PMID: 20175888
BMC Genomics · 2010
0.60