Molecular weight (DA)
243kD
Immunogen
Synthesized peptide derived from human protein . at AA range: 830-910
Specificity
MYO7A Polyclonal Antibody detects endogenous levels of protein.
Formulation
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Dilution rate
WB 1:500-2000 ELISA 1:5000-20000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008],
Function
alternative products:Additional isoforms seem to exist,developmental stage:Detected in optic cup in 5.5 weeks-old embryos. Expressed in retinal pigment epithelium, cochlear and vestibular neuroepithelia, and olfactory epithelium at 8 weeks. At 19 weeks, present in both pigment epithelium and photoreceptor cells. At 24-28 weeks, expression in pigment epithelium and photoreceptor cells increases. Present in pigment epithelium and photoreceptor cells in adult.,disease:Defects in MYO7A are the cause of non-syndromic sensorineural deafness autosomal dominant type 11 (DFNA11) [MIM:601317].,disease:Defects in MYO7A are the cause of non-syndromic sensorineural deafness autosomal recessive type 2 (DFNB2) [MIM:600060]; also called neurosensory non-syndromic recessive deafness 2 (NSRD2). DFNB2 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptor
Protein name
Unconventional myosin-VIIa
Human protein sequence Database
Q13402
Mouse protein sequence database
P97479
Rat protein sequence database
Cellular localization
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 (PubMed:21709241). .
Tissue expression
Expressed in the pigment epithelium and the photoreceptor cells of the retina. Also found in kidney, liver, testis, cochlea, lymphocytes. Not expressed in brain.
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