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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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MYO1H
myosin IH
Chromosome 12 Β· 12q24.11
NCBI Gene: 283446Ensembl: ENSG00000174527.11HGNC: HGNC:13879UniProt: A0A140TA25
19PubMed Papers
20Diseases
0Drugs
4Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
microfilament motor activitycytoplasmplasma membranemicrovilluscentral hypoventilation syndrome, congenital, 2, and autonomic dysfunctionhypertensioncentral hypoventilation syndrome, congenitalcentral hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
✦AI Summary

MYO1H encodes unconventional myosin IH, a motor protein involved in intracellular transport and vesicle trafficking 1. The protein functions in actin cytoskeleton organization, actin filament-based movement, and endocytosis, with expression in microvilli and the plasma membrane [GO annotations]. MYO1H plays a vital role in chondrocyte morphology and intracellular movement, directly influencing mandibular skeletal development 2. Genetically, MYO1H variants are associated with craniofacial skeletal patterns: the rs10850110 polymorphism shows strong association with mandibular prognathism risk (odds ratio 7.44) 3, while rs3825393 associates with mandibular retrognathism 4. The rs3825393 C>T variant (p.Pro1001Leu) is significantly associated with mandibular prognathism, with zebrafish knockdown models demonstrating jaw cartilage defects 5. MYO1H variants associate with both sagittal and vertical craniofacial patterns in Brazilian populations 6. Beyond craniofacial development, MYO1H mutations cause rare recessive congenital central hypoventilation syndrome; a homozygous frameshift mutation impairs CO2 sensitivity in retrotrapezoid neurons controlling respiration 1, and a heterozygous deletion variant may contribute to hereditary spastic paraplegia 7. These findings establish MYO1H as a multifunctional gene critical for skeletal morphogenesis and neurological control.

Sources cited
1
MYO1H gene encodes unconventional myosin 1H protein involved in intracellular movement and morphology of chondrocytes, plays vital role in mandibular prognathism and retrognathism
PMID: 33448167
2
MYO1H rs10850110 A<G polymorphism associated with increased risk for mandibular prognathism phenotype (odds ratio 7.44, P<0.01)
PMID: 28364893
3
MYO1H rs3825393 polymorphism shows statistically significant association with mandibular retrognathism
PMID: 27131252
4
MYO1H rs3825393 C>T variant (p.Pro1001Leu) significantly associated with mandibular prognathism; zebrafish knockdown models show jaw cartilage defects
PMID: 29986156
5
MYO1H genetic variant rs10850110 shows statistically significant association with sagittal and vertical craniofacial skeletal patterns in Brazilian populations
PMID: 30366217
6
MYO1H encodes unconventional myosin IH functioning as motor protein in intracellular transport and vesicle trafficking; homozygous frameshift mutation causes recessive congenital central hypoventilation syndrome with impaired CO2 sensitivity
PMID: 28779001
7
MYO1H variant NM_001101421.3:c.2972_2974del identified as possible disease-causing deletion for hereditary spastic paraplegia
PMID: 35704118
8
MYO1H identified as candidate gene for mandibular prognathism among multiple genetic loci and genes involved in this craniofacial deformity
PMID: 28570402
Disease Associationsβ“˜20
central hypoventilation syndrome, congenital, 2, and autonomic dysfunctionOpen Targets
0.58Moderate
hypertensionOpen Targets
0.43Moderate
central hypoventilation syndrome, congenitalOpen Targets
0.37Weak
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung diseaseOpen Targets
0.37Weak
Ondine syndromeOpen Targets
0.37Weak
neurotic disorderOpen Targets
0.36Weak
insomniaOpen Targets
0.35Weak
angina pectorisOpen Targets
0.32Weak
essential hypertensionOpen Targets
0.30Weak
metabolic diseaseOpen Targets
0.29Weak
HeadacheOpen Targets
0.26Weak
AnxietyOpen Targets
0.25Weak
parasitic infectionOpen Targets
0.24Weak
myocardial infarctionOpen Targets
0.23Weak
IrritabilityOpen Targets
0.23Weak
ovarian neoplasmOpen Targets
0.21Weak
mood disorderOpen Targets
0.20Weak
musculoskeletal system diseaseOpen Targets
0.20Weak
cardiac arrhythmiaOpen Targets
0.18Weak
major depressive disorderOpen Targets
0.18Weak
Pathogenic Variants4
NM_001101421.4(MYO1H):c.2454+1G>APathogenic
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
β˜…β˜…β˜†β˜†2025
NM_001101421.4(MYO1H):c.263del (p.Val88fs)Likely pathogenic
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
β˜…β˜†β˜†β˜†2025β†’ Residue 88
NM_001101421.4(MYO1H):c.2427G>A (p.Trp809Ter)Likely pathogenic
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
β˜…β˜†β˜†β˜†2025β†’ Residue 809
NM_001101421.4(MYO1H):c.2572del (p.Arg858fs)Pathogenic
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
β˜†β˜†β˜†β˜†2021β†’ Residue 858
View on ClinVar β†—
Related Genes
MYO1AShared pathway75%MYO1DShared pathway75%MYO1FShared pathway67%MYO1BShared pathway60%MYO7BShared pathway50%MYO5CShared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
82%
Heart
59%
Ovary
30%
Brain
22%
Liver
14%
Gene Interaction Network
Click a node to explore
MYO1HMYO1AMYO1DMYO1FMYO1BMYO7BMYO5C
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt B4DNW6
View on AlphaFold β†—
RankingsWhere MYO1H stands among ~20K protein-coding genes
  • #14,473of 20,598
    Most Researched19
  • #3,860of 5,498
    Most Pathogenic Variants4
Genes detectedMYO1H
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Relationship of the rs10850110 and rs11611277 polymorphisms of the MYO1H gene with non-syndromic mandibular prognathism in the Iranian population.
PMID: 33448167
Dent Med Probl Β· 2020
1.00
2
Genetic variants in ACTN3 and MYO1H are associated with sagittal and vertical craniofacial skeletal patterns.
PMID: 30366217
Arch Oral Biol Β· 2019
0.90
3
Genetic polymorphisms underlying the skeletal Class III phenotype.
PMID: 28364893
Am J Orthod Dentofacial Orthop Β· 2017
0.80
4
MYO1H is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia.
PMID: 35704118
Mol Genet Genomics Β· 2022
0.70
5
Role of myosin 1H gene polymorphisms in mandibular retrognathism.
PMID: 27131252
Am J Orthod Dentofacial Orthop Β· 2016
0.60