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 SLCterminal 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]
Function:
Probable actin-based motor with a protein kinase activity. Probably plays a role in vision and hearing.
Subcellular Location:
Cytoplasm, cytoskeleton.
Tissue Specificity:
Strongest expression in retina, retinal pigment epithelial cells, cochlea and pancreas.
DISEASE:
Deafness, autosomal recessive, 30
Similarity:
In the N-terminal section; belongs to the protein kinase superfamily.
STE Ser/Thr protein kinase family.
Contains 3 IQ domains.
Contains 1 myosin head-like domain.
Contains 1 protein kinase domain.
SWISS:
Q8NEV4
Gene ID:
53904
Database links:
Entrez Gene: 53904 Human
Omim: 601368 Human
SwissProt: Q8NEV4 Human
Unigene: 662630 Human
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