Version: 8.0.0Date: Tue Jan 28 2025
Gene
MYO1A
- Species
- Homo sapiens
- Symbol
- MYO1A
- Name
- myosin IA
- Synonyms
- BBM-I
- BBMI
- Biotype
- protein coding gene
- Automated Description
- Predicted to enable actin filament binding activity and microfilament motor activity. Involved in sensory perception of sound and vesicle localization. Located in several cellular components, including basolateral plasma membrane; brush border; and lateral plasma membrane. Part of filamentous actin. Implicated in sensorineural hearing loss.
- RGD Description
- This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional skeletal muscle myosin-1 (MYH1). Unconventional myosins contain the basic domains characteristic of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with autosomal dominant deafness. Alternatively spliced variants have been found for this gene. [provided by RefSeq, Dec 2011]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR13140
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
Gene | Association | Disease Qualifier | Disease | Evidence | Source | Based On | References |
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Sequence Feature Viewer
- Genome location
- Chr12:57028517...57051198 - (22.68 kb)
- Assembly version
- GRCh38
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