MYO3A Chromosome 10
Myosin IIIA
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What This Gene Does
The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Myosin heavy chains, class III
Locus Type
gene with protein product
Location
10p12.1
Ensembl
ENSG00000095777
Associated Conditions (11)
Autosomal recessive nonsyndromic hearing loss 30
MYO3A-related disorder
Inborn genetic diseases
Hearing loss
autosomal dominant 90
Rare genetic deafness
Monogenic hearing loss
Nonsyndromic genetic hearing loss
nonsyndromic sensorineural hearing loss
Autosomal dominant nonsyndromic hearing loss 30
Sensorineural hearing loss disorder
Key Variants
RS112195128
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
Health Risk
RS114982270
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 30, MYO3A-related disorder, Autosomal recessive nonsyndromic hearing loss 30
Health Risk
RS115859827
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
Health Risk
RS138593211
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
Health Risk
RS138955440
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
Health Risk
RS139504940
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
Health Risk
RS139818474
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
Health Risk
RS139958275
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
Health Risk
RS140154015
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 30, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 30
Health Risk
RS140301218
Conflicting classifications of pathogenicity
Health Risk
RS141903506
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142823078
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
Health Risk
All Variants (123)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112195128 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30 |
| RS114982270 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, MYO3A-related disorder, Autosomal recessive nonsyndromic hearing loss 30 |
| RS115859827 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30 |
| RS138593211 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30 |
| RS138955440 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30 |
| RS139504940 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30 |
| RS139818474 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30 |
| RS139958275 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30 |
| RS140154015 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 30 |
| RS140301218 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141903506 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142823078 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30 |
| RS143749728 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143918373 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 30 |
| RS144053789 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, MYO3A-related disorder, Inborn genetic diseases |
| RS145970949 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Hearing loss, autosomal dominant 90 |
| RS146647767 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30 |
| RS146693681 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, MYO3A-related disorder, Autosomal recessive nonsyndromic hearing loss 30 |
| RS146832858 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30 |
| RS147376000 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30 |
| RS147749053 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30 |
| RS148349532 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30 |
| RS148993025 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 30 |
| RS149521185 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS184043065 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 30 |
| RS184466929 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS189595832 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30 |
| RS199843655 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30 |
| RS200678745 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30 |
| RS201023600 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, MYO3A-related disorder, Autosomal recessive nonsyndromic hearing loss 30 |
| RS201033926 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30 |
| RS201572198 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201980317 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202189844 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS34151474 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30 |
| RS35447806 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, MYO3A-related disorder, Autosomal recessive nonsyndromic hearing loss 30 |
| RS35541310 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30 |
| RS35575696 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30 |
| RS35675577 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30 |
| RS369510142 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS371741845 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, MYO3A-related disorder, Autosomal recessive nonsyndromic hearing loss 30 |
| RS372169216 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373422750 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30 |
| RS3737274 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30 |
| RS375346333 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30 |
| RS375545757 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS375717548 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30 |
| RS3758442 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, MYO3A-related disorder, Autosomal recessive nonsyndromic hearing loss 30 |
| RS376559049 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30 |
| RS4592324 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 30, MYO3A-related disorder, Autosomal recessive nonsyndromic hearing loss 30 |