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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MYH1
myosin heavy chain 1
Chromosome 17 · 17p13.1
NCBI Gene: 4619Ensembl: ENSG00000109061.11HGNC: HGNC:7567UniProt: P12882
76PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
muscle myosin complexsensory perception of soundprotein bindingcytoplasmic ribonucleoprotein granulerhabdomyolysisAlzheimer diseaselysosomal storage diseaseParkinson disease
✦AI Summary

MYH1 (myosin heavy chain 1) is a skeletal muscle protein essential for normal hearing through its role in outer hair cell (OHC) function. In the auditory system, MYH1 regulates cochlear amplification by positively modulating prestin (SLC26A5) activity and OHC electromotility 1. MYH1 deficiency in knockout mice results in elevated auditory brainstem response thresholds and absent otoacoustic emissions, reflecting impaired OHC electromotility 1. As a myosin II complex component, MYH1 participates in sarcomeric muscle contraction through actin filament-based motor activity [GO annotations]. In skeletal muscle differentiation, MYH1 expression is modulated during myotube maturation, with reduced MYH1 levels associated with a more oxidative phenotype in IGF1-treated myotubes 2. Biallelic MYH1 variants cause autosomal recessive hearing loss in humans, with variants—particularly in the head domain—abolishing MYH1's prestin-regulatory function and membrane traction force modulation 1. Hearing loss onset ranges from congenital to childhood and is typically non-progressive; three of five affected individuals showed osteopenia 1. A pathogenic E321G mutation in equine MYH1 produces a hyper-contractile phenotype with increased force production and calcium sensitivity 3. MYH1 mutations have also been identified in genetic rhabdomyolysis cases 4.

Sources cited
1
MYH1 is essential for OHC electromotility and prestin regulation in hearing; biallelic MYH1 variants cause autosomal recessive hearing loss in humans with congenital to childhood onset
PMID: 39482536
2
MYH1 expression is reduced in IGF1-treated myotubes, associated with a more oxidative muscle phenotype
PMID: 38690930
3
MYH1 E321G mutation produces hyper-contractility with increased force production and calcium sensitivity
PMID: 34943936
4
MYH1 variants are identified as causative of genetic rhabdomyolysis
PMID: 35942668
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
rhabdomyolysisOpen Targets
0.24Weak
Alzheimer diseaseOpen Targets
0.19Weak
lysosomal storage diseaseOpen Targets
0.19Weak
multiple sclerosisOpen Targets
0.19Weak
neurodegenerative diseaseOpen Targets
0.19Weak
Parkinson diseaseOpen Targets
0.19Weak
Congenital muscular alpha-dystroglycanopathy with brain and eye anomaliesOpen Targets
0.12Weak
Congenital muscular dystrophy, Fukuyama typeOpen Targets
0.12Weak
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4Open Targets
0.12Weak
Presynaptic congenital myasthenic syndromesOpen Targets
0.05Suggestive
myopathy, sarcoplasmic bodyOpen Targets
0.05Suggestive
autosomal dominant limb-girdle muscular dystrophy type 1FOpen Targets
0.05Suggestive
progressive scapulohumeroperoneal distal myopathyOpen Targets
0.04Suggestive
nemaline myopathy 5B, autosomal recessive, childhood-onsetOpen Targets
0.04Suggestive
vacuolar NeuromyopathyOpen Targets
0.04Suggestive
myofibrillar myopathy 11Open Targets
0.04Suggestive
Hereditary inclusion body myopathy - joint contractures - ophthalmoplegiaOpen Targets
0.04Suggestive
myopathy, proximal, and ophthalmoplegiaOpen Targets
0.04Suggestive
neuronopathy, distal hereditary motor, autosomal recessive 3Open Targets
0.04Suggestive
inclusion body myositisOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MYL6Protein interaction100%MYL12BProtein interaction100%ACTBProtein interaction99%MYL9Protein interaction99%MYL12AProtein interaction99%MYH10Protein interaction99%
Tissue Expression6 tissues
Lung
100%
Liver
32%
Ovary
17%
Heart
7%
Brain
4%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
MYH1MYL6MYL12BACTBMYL9MYL12AMYH10
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P12882
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.03LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.92 [0.83–1.03]
RankingsWhere MYH1 stands among ~20K protein-coding genes
  • #6,264of 20,598
    Most Researched76
  • #10,278of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedMYH1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
MYH1 deficiency disrupts outer hair cell electromotility, resulting in hearing loss.
PMID: 39482536
Exp Mol Med · 2024
1.00
2
Research into the characteristic molecules significantly affecting liver cancer immunotherapy.
PMID: 36860864
Front Immunol · 2023
0.90
3
IGF1 promotes human myotube differentiation toward a mature metabolic and contractile phenotype.
PMID: 38690930
Am J Physiol Cell Physiol · 2024
0.80
4
PMID: 39273074
Cells · 2024
0.70
5
LncRNAs down-regulate Myh1, Casr, and Mis18a expression in the Substantia Nigra of aged male rats.
PMID: 31576812
Aging (Albany NY) · 2019
0.60