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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MYL3
myosin light chain 3
Chromosome 3 · 3p21.31
NCBI Gene: 4634Ensembl: ENSG00000160808.14HGNC: HGNC:7584UniProt: P08590
57PubMed Papers
21Diseases
3Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of striated muscle contractionventricular cardiac muscle tissue morphogenesisA bandI bandhypertrophic cardiomyopathyRare familial disorder with hypertrophic cardiomyopathyAbnormality of the cardiovascular systemfamilial hypertrophic cardiomyopathy
✦AI Summary

MYL3 encodes the regulatory light chain of myosin, a structural component of the sarcomere that regulates striated muscle contraction and cardiac force generation 1. As a non-calcium-binding regulatory light chain, MYL3 functions within the myosin II complex to modulate cardiac muscle contractility and ventricular morphogenesis. MYL3 is definitively associated with familial hypertrophic cardiomyopathy (HCM), classified among eight genes with definitive evidence of disease causation 1. Pathogenic MYL3 variants account for a small but consistent proportion of HCM cases identified through genetic screening 2, with penetrance of approximately 32% in variant carriers—lower than major HCM genes like MYH7 and MYBPC3 3. Pediatric cardiomyopathy patients harbor a higher burden of MYL3 variants compared to adults, suggesting age-dependent disease manifestation 4. Beyond cardiac function, MYL3 protects chondrocytes from senescence by inhibiting clathrin-mediated endocytosis and Notch signaling activation, with potential implications for osteoarthritis 5. Clinically, MYL3 genetic testing is recommended as part of systematic HCM screening strategies, following primary analysis of MYBPC3 and MYH7 2. The variable penetrance of MYL3 variants necessitates careful genetic counseling regarding disease risk in asymptomatic carriers.

Sources cited
1
MYL3 is definitively associated with HCM, one of 8 genes with definitive evidence of disease causation
PMID: 30681346
2
MYL3 mutations identified in HCM patients; recommended for screening after MYH7 and MYBPC3
PMID: 12707239
3
MYL3 penetrance is approximately 32% in variant carriers, lower than other major HCM genes
PMID: 37929589
4
Pediatric cardiomyopathy patients have higher burden of MYL3 variants compared to adults
PMID: 37477868
5
MYL3 protects chondrocytes from senescence by inhibiting clathrin-mediated endocytosis and Notch signaling
PMID: 37794006
Disease Associationsⓘ21
hypertrophic cardiomyopathyOpen Targets
0.83Strong
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.53Moderate
Abnormality of the cardiovascular systemOpen Targets
0.50Moderate
familial hypertrophic cardiomyopathyOpen Targets
0.49Moderate
cardiovascular diseaseOpen Targets
0.46Moderate
cardiomyopathyOpen Targets
0.42Moderate
heart failureOpen Targets
0.39Weak
chondrodysplasia Blomstrand typeOpen Targets
0.33Weak
metaphyseal chondrodysplasia, Jansen typeOpen Targets
0.32Weak
Eiken syndromeOpen Targets
0.31Weak
primary failure of tooth eruptionOpen Targets
0.31Weak
dilated cardiomyopathy 1UOpen Targets
0.30Weak
genetic disorderOpen Targets
0.17Weak
restrictive cardiomyopathyOpen Targets
0.12Weak
hypertrophic cardiomyopathy 1Open Targets
0.12Weak
MERRFOpen Targets
0.12Weak
MERRF syndromeOpen Targets
0.12Weak
Prolonged QT intervalOpen Targets
0.12Weak
hypertensionOpen Targets
0.11Weak
cardiomyopathy, familial restrictive, 1Open Targets
0.11Weak
Cardiomyopathy, familial hypertrophic, 8UniProt
Pathogenic Variants5
NM_000258.3(MYL3):c.445A>G (p.Met149Val)Pathogenic
Hypertrophic cardiomyopathy 8|not provided|Hypertrophic cardiomyopathy|Cardiovascular phenotype
★★☆☆2026→ Residue 149
NM_000258.3(MYL3):c.281G>A (p.Arg94His)Pathogenic
not provided|Hypertrophic cardiomyopathy 8|Hypertrophic cardiomyopathy|Cardiomyopathy|Primary familial hypertrophic cardiomyopathy|Cardiovascular phenotype
★★☆☆2025→ Residue 94
NM_000258.3(MYL3):c.447G>T (p.Met149Ile)Likely pathogenic
not provided|Hypertrophic cardiomyopathy
★★☆☆2023→ Residue 149
NM_000258.3(MYL3):c.81del (p.Glu28fs)Likely pathogenic
not provided
★☆☆☆2025→ Residue 28
NM_000258.3(MYL3):c.64G>A (p.Ala22Thr)Likely pathogenic
not provided
☆☆☆☆2016→ Residue 22
View on ClinVar ↗
Drug Targets3
DANICAMTIVPhase II/III
Cardiac myosin activator
MAVACAMTENApproved
Cardiac myosin inhibitor
hypertrophic cardiomyopathy
OMECAMTIV MECARBILApproved
Cardiac myosin activator
cardiovascular disease
Related Genes
MYBPC1Protein interaction100%MYL9Protein interaction99%MYL12AProtein interaction99%MYLK3Protein interaction95%TCAPProtein interaction95%MYH14Protein interaction93%
Tissue Expression6 tissues
Heart
100%
Lung
0%
Brain
0%
Ovary
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
MYL3MYBPC1MYL9MYL12AMYLK3TCAPMYH14
PROTEIN STRUCTURE
Preparing viewer…
PDB8ACT · 3.60 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.05Tolerant
Observed/Expected LoF0.49 [0.31–0.81]
RankingsWhere MYL3 stands among ~20K protein-coding genes
  • #7,989of 20,598
    Most Researched57
  • #655of 1,025
    FDA-Approved Drug Targets2
  • #3,571of 5,498
    Most Pathogenic Variants5
  • #6,814of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedMYL3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
PMID: 30681346
Circ Genom Precis Med · 2019
1.00
2
Genetics of hypertrophic cardiomyopathy in Norway.
PMID: 24111713
Clin Genet · 2014
0.90
3
Age and Sex Differences in the Genetics of Cardiomyopathy.
PMID: 37477868
J Cardiovasc Transl Res · 2023
0.80
4
Meta-Analysis of Penetrance and Systematic Review on Transition to Disease in Genetic Hypertrophic Cardiomyopathy.
PMID: 37929589
Circulation · 2024
0.70
5
MYL3 protects chondrocytes from senescence by inhibiting clathrin-mediated endocytosis and activating of Notch signaling.
PMID: 37794006
Nat Commun · 2023
0.60