Mouse Anti-MYO7A (AA 2118-2214) Recombinant Antibody (CBFYM-2993) (CBMAB-M3188-FY)

Name: Mouse Anti-MYO7A (AA 2118-2214) Recombinant Antibody (CBFYM-2993)
SKU: CBMAB-M3188-FY
Rating: 5 (1 reviews)

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Datasheet

SDS

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Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

CBFYM-2993

Application

ELISA

Immunogen

Recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.

Specificity

Human

Antibody Isotype

IgG1, k

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format

Liquid

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Epitope

AA 2118-2214

More Infomation

Target

Full Name

MYO7A

Introduction

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 retinal degeneration. Alternative splicing results in multiple transcript variants.

Entrez Gene ID

4647

UniProt ID

Q13402

Alternative Names

Myosin VIIA; Myosin VIIA (Usher Syndrome 1B (Autosomal Recessive, Severe)); USH1B; Unconventional Myosin-VIIa; MYOVIIA; DFNA11; MYU7A; NSRD2; DFNB2

Function

Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. 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 disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. In the inner ear, plays an important role in differentiation, morphogenesis and organization of cochlear hair cell bundles. Involved in hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity (By similarity).

Motor protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.

Biological Process

Actin filament-based movement Source: UniProtKB
Actin filament organization Source: GO_Central
Auditory receptor cell stereocilium organization Source: Ensembl
Cellular protein localization Source: UniProtKB
Equilibrioception Source: HGNC-UCL
Eye photoreceptor cell development Source: UniProtKB
Intracellular protein transport Source: Ensembl
Lysosome organization Source: UniProtKB
Mechanoreceptor differentiation Source: UniProtKB
Phagolysosome assembly Source: Ensembl
Pigment granule transport Source: Ensembl
Post-embryonic animal organ morphogenesis Source: Ensembl
Sensory organ development Source: GO_Central
Sensory perception of light stimulus Source: HGNC-UCL
Sensory perception of sound Source: UniProtKB
Vesicle transport along actin filament Source: GO_Central
Visual perception Source: UniProtKB

Cellular Location

Cytoskeleton
Cytoplasm
Other locations
cell cortex
synapse
Note: 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).

Involvement in disease

Usher syndrome 1B (USH1B):
USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.
Deafness, autosomal recessive, 2 (DFNB2):
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Deafness, autosomal dominant, 11 (DFNA11):
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA11 is characterized by onset after complete speech acquisition and subsequent gradual progression.

Holló, A., Billington, N., Takagi, Y., Kengyel, A., Sellers, J. R., & Liu, R. (2023). Molecular regulatory mechanism of human myosin-7a. Journal of Biological Chemistry, 299(10).

Joo, S. Y., Na, G., Kim, J. A., Yoo, J. E., Kim, D. H., Kim, S. J., ... & Jung, J. (2022). Clinical heterogeneity associated with MYO7A variants relies on affected domains. Biomedicines, 10(4), 798.

Kabahuma, R. I., Schubert, W. D., Labuschagne, C., Yan, D., Blanton, S. H., Pepper, M. S., & Liu, X. Z. (2021). Spectrum of MYO7A mutations in an indigenous South African population further elucidates the nonsyndromic autosomal recessive phenotype of DFNB2 to include both homozygous and compound heterozygous mutations. Genes, 12(2), 274.

Roman-Naranjo, P., Moleon, M. D. C., Aran, I., Escalera-Balsera, A., Soto-Varela, A., Bächinger, D., ... & Lopez-Escamez, J. A. (2021). Rare coding variants involving MYO7A and other genes encoding stereocilia link proteins in familial meniere disease. Hearing Research, 409, 108329.

Kuppa, A., & Sergeev, Y. V. (2021). Homology modeling and global computational mutagenesis of human myosin VIIa. Journal of analytical & pharmaceutical research, 10(1), 41.

Li, S., Mecca, A., Kim, J., Caprara, G. A., Wagner, E. L., Du, T. T., ... & Shin, J. B. (2020). Myosin-VIIa is expressed in multiple isoforms and essential for tensioning the hair cell mechanotransduction complex. Nature communications, 11(1), 2066.

Wen, Q., Wu, S., Lee, W. M., Wong, C. K., Lui, W. Y., Silvestrini, B., & Cheng, C. Y. (2019). Myosin VIIa supports spermatid/organelle transport and cell adhesion during spermatogenesis in the rat testis. Endocrinology, 160(3), 484-503.

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
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For research use only. Not intended for any clinical use.

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