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- Table of Contents
Facts about Unconventional myosin-VIIa.
Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor discs.
Human | |
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Gene Name: | MYO7A |
Uniprot: | Q13402 |
Entrez: | 4647 |
Belongs to: |
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TRAFAC class myosin-kinesin ATPase superfamily |
deafness, autosomal dominant 11; deafness, autosomal recessive 2; DFNA11; DFNB2; myosin VIIA; myosin-VIIa; MYOVIIA; MYU7A; USH1Bsevere))
Mass (kDA):
254.39 kDA
Human | |
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Location: | 11q13.5 |
Sequence: | 11; NC_000011.10 (77128192..77215241) |
Expressed in the pigment epithelium and the photoreceptor cells of the retina. Also found in kidney, liver, testis, cochlea, lymphocytes. Not expressed in brain.
Cytoplasm. Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Cell junction, synapse. In the photoreceptor cells, mainly localized in the inner and base of outer segments as well as in the synaptic ending region (PubMed:8842737). In retinal pigment epithelial cells colocalizes with a subset of melanosomes, displays predominant localization to stress fiber-like structures and some localization to cytoplasmic puncta (PubMed:19643958, PubMed:27331610). Detected at the tip of cochlear hair cell stereocilia (PubMed:21709241). The complex formed by MYO7A, USH1C and USH1G colocalizes with F-actin (PubM
PMID: 8622919 by Weil D., et al. Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.
PMID: 8884267 by Chen Z.-Y., et al. Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in usher syndrome 1B.