MYO3A

MYO3A
Identifiers
Aliases	MYO3A, DFNB30, myosin IIIA
External IDs	MGI: 2183924 HomoloGene: 49486 GeneCards: MYO3A
Genetically Related Diseases
obesity
Gene ontology Molecular function • transferase activity • protein kinase activity • nucleotide binding • actin-dependent ATPase activity • ADP binding • calmodulin binding • kinase activity • microfilament motor activity • protein serine/threonine kinase activity • plus-end directed microfilament motor activity • actin binding • motor activity • ATP binding Cellular component • cytoplasm • filamentous actin • filopodium • cytoskeleton • myosin complex Biological process • phosphorylation • response to stimulus • sensory perception of sound • protein phosphorylation • protein autophosphorylation • visual perception Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	53904	667663
Ensembl	ENSG00000095777	ENSMUSG00000025716
UniProt	Q8NEV4	Q8K3H5
RefSeq (mRNA)	NM_017433	NM_148413
RefSeq (protein)	NP_059129	n/a
Location (UCSC)	Chr 10: 25.93 – 26.21 Mb	Chr 2: 22.23 – 22.62 Mb
PubMed search

53904

667663

ENSG00000095777

ENSMUSG00000025716

Q8NEV4

Q8K3H5

NM_017433

NM_148413

NP_059129

n/a

Myosin IIIA is a protein that in humans is encoded by the MYO3A gene.

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.

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Wikipedia