Target：MYO7A

Gene Name：MYO7A USH1B

Protein Name：Unconventional myosin-VIIa

Human Gene Id：4647

Human Swiss Prot No：Q13402

Mouse Swiss Prot No：P97479

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.

Source：Polyclonal, Rabbit,IgG

Dilution：WB 1:500-2000 ELISA 1:5000-20000

Purification：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Concentration：1 mg/ml

Storage Stability：-15°C to -25°C/1 year(Do not lower than -25°C)

Observed Band(KD)：243kD

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

Subcellular Location：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). .

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.