MYO1F Chromosome 19
Myosin IF
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What This Gene Does
Myosins are molecular motors that use the energy from ATP hydrolysis to generate force on actin filaments. The protein encoded by this gene is an unconventional myosin that may be involved in the intracellular movement of membrane-enclosed compartments. There is evidence to suggest that mutations in this gene can result in hearing loss. [provided by RefSeq, Jan 2017]
Gene Info
Gene Group
Myosin heavy chains, class I
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000142347
Associated Conditions (1)
MYO1F-related disorder
Key Variants
RS182601554
Conflicting classifications of pathogenicity
MYO1F-related disorder, MYO1F-related disorder
Health Risk
RS199953551
Conflicting classifications of pathogenicity
Health Risk
RS201646155
Conflicting classifications of pathogenicity
Health Risk
RS765257989
Conflicting classifications of pathogenicity
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS182601554 | Health Risk | Conflicting classifications of pathogenicity | MYO1F-related disorder, MYO1F-related disorder |
| RS199953551 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201646155 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765257989 | Health Risk | Conflicting classifications of pathogenicity | — |