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Mouse Anti-MYO15A (AA 3432-3530) Recombinant Antibody (CBFYM-2979) (CBMAB-M3174-FY)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
CBFYM-2979
Antibody Isotype
IgG2a, k
Application
ELISA, WB

Basic Information

Immunogen
Recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.Immunogen sequence: PCILAINHNG LNFLSTETHE LMVKFPLKEI QSTRTQRPTA NSSYPYVEIA LGDVAAQRTL QLQLEQGLEL CRVVAVHVEN LLSAHEKRLT LPPSEITLL
Specificity
Human
Antibody Isotype
IgG2a, 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 3432-3530

Target

Full Name
myosin XVA
Introduction
This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined.
Entrez Gene ID
51168
UniProt ID
Q9UKN7
Alternative Names
Myosin XVA; Unconventional Myosin-15; MYO15; Unconventional Myosin-XV; Myosin-XV; DFNB3
Function
Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. Required for the arrangement of stereocilia in mature hair bundles (By similarity).
Biological Process
Actin filament organization Source: GO_Central
Inner ear morphogenesis Source: Ensembl
Locomotory behavior Source: Ensembl
Response to light stimulus Source: Ensembl
Sensory perception of sound Source: ProtInc
Vesicle transport along actin filament Source: GO_Central
Cellular Location
Cytoskeleton
Other locations
stereocilium
Note: Localizes to stereocilium tips in cochlear and vestibular hair cells.
Involvement in disease
Deafness, autosomal recessive, 3 (DFNB3):
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.
More Infomation

Neissi, M., Al-Badran, A. I., & Mohammadi-Asl, J. (2024). A Novel Deleterious MYO15A Gene Mutation Causes Nonsyndromic Hearing Loss. Iranian Journal of Otorhinolaryngology, 36(1), 355.

Wang, L., Zhang, Y., Xue, Q., Huang, P., & Liu, X. (2022). Identification of novel compound heterozygous mutations of the MYO15A gene with autosomal recessive non‐syndromic hearing loss. Journal of Clinical Laboratory Analysis, 36(10), e24653.

Moreland, Z. G., & Bird, J. E. (2022). Myosin motors in sensory hair bundle assembly. Current opinion in cell biology, 79, 102132.

Azadegan-Dehkordi, F., Ashrafi, K., Mobini, G. R., Yazdanpanahi, N., Shirzad, M., Farrokhi, E., & Hashemzadeh-Chaleshtori, M. (2021). Detection of two pathogenesis previously unreported myosin xva pathogenic variants in two large Iranian pedigrees with autosomal recessive nonsyndromic hearing loss. Indian Journal of Otology, 27(1), 14-21.

Sarmadi, A., Nasrniya, S., Narrei, S., Nouri, Z., Abtahi, H., & Tabatabaiefar, M. A. (2020). Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss. Molecular Biology Reports, 47, 5355-5364.

Du, H., Li, N., & Xu, Z. (2020). Myosin XVA: dancing at the tips of the stereocilia. Journal of Bio-X Research, 3(02), 60-65.

Zhou, H., Kuermanhan, A., Zhang, Z., Wang, W., Dong, J., Zhou, Z., ... & Chen, B. (2019). Identification of a novel homozygous mutation in the MYO15A gene in a Kazakh family with non-syndromic hearing loss. International Journal of Pediatric Otorhinolaryngology, 125, 128-132.

Zarepour, N., Koohiyan, M., Taghipour-Sheshdeh, A., Nemati-Zargaran, F., Saki, N., Mohammadi-Asl, J., ... & Hashemzadeh-Chaleshtori, M. (2019). Identification and clinical implications of a novel MYO15A variant in a consanguineous Iranian family by targeted exome sequencing. Audiology and Neurotology, 24(1), 25-31.

Bai, X., Nian, S., Feng, L., Ruan, Q., Luo, X., Wu, M., & Yan, Z. (2019). Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next‐generation sequencing. Molecular Genetics & Genomic Medicine, 7(8), e808.

Akbariazar, E., Vahabi, A., & Abdi Rad, I. (2019). Report of a novel splicing mutation in the MYO15A gene in a patient with sensorineural hearing loss and spectrum of the MYO15A mutations. Clinical Medicine Insights: Case Reports, 12, 1179547619871907.

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For research use only. Not intended for any clinical use.

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