Mouse Anti-MYO3A (AA 1400-1490) Recombinant Antibody (CBFYM-2988) (CBMAB-M3183-FY)

Name: Mouse Anti-MYO3A (AA 1400-1490) Recombinant Antibody (CBFYM-2988)
SKU: CBMAB-M3183-FY
Rating: 5 (1 reviews)

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Datasheet

SDS

Request for COA

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

Basic Information

Host Animal

Mouse

Clone

CBFYM-2988

Application

ELISA, WB

Immunogen

Recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.Immunogen sequence: HEEINNIKKK DNKDSKATSE REACGLAIFS KQISKLSEEY FILQKKLNEM ILSQQLKSLY LGVSHHKPIN RRVSSQQCLS GVCKGEEPKI L

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 1400-1490

More Infomation

Target

Full Name

myosin IIIA

Introduction

The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins and unconventional myosins based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea.

Entrez Gene ID

53904

UniProt ID

Q8NEV4

Alternative Names

Myosin IIIA; EC 2.7.11.1; Deafness, Autosomal Recessive 30; Myosin-IIIa; EC 2.7.11; DFNB30

Function

Probable actin-based motor with a protein kinase activity. Probably plays a role in vision and hearing (PubMed:12032315).

Required for normal cochlear hair bundle development and hearing. Plays an important role in the early steps of cochlear hair bundle morphogenesis. Influences the number and lengths of stereocilia to be produced and limits the growth of microvilli within the forming auditory hair bundles thereby contributing to the architecture of the hair bundle, including its staircase pattern. Involved in the elongation of actin in stereocilia tips by transporting the actin regulatory factor ESPN to the plus ends of actin filaments (By similarity).

Biological Process

Cochlea morphogenesis Source: UniProtKB
Protein autophosphorylation Source: UniProtKB
Response to stimulus Source: UniProtKB-KW
Sensory perception of sound Source: UniProtKB
Visual perception Source: UniProtKB-KW

Cellular Location

Cytoskeleton
Cytoplasm
Other locations
filopodium tip
stereocilium
Note: Increased localization at the filodium tip seen in the presence of MORN4.

Involvement in disease

Deafness, autosomal recessive, 30 (DFNB30):
A form of non-syndromic deafness characterized by bilateral progressive hearing loss, which first affects the high frequencies. Hearing loss begins in the second decade, and by age 50 is severe in high and middle frequencies and moderate at low frequencies.

Gunther, L. K., Cirilo Jr, J. A., Desetty, R., & Yengo, C. M. (2022). Deafness mutation in the MYO3A motor domain impairs actin protrusion elongation mechanism. Molecular biology of the cell, 33(1), ar5.

Bueno, A. S., Nunes, K., Dias, A. M., Alves, L. U., Mendes, B. C., Sampaio-Silva, J., ... & Mingroni-Netto, R. C. (2022). Frequency and origin of the c. 2090T> G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss. European Journal of Human Genetics, 30(1), 13-21.

Doll, J., Hofrichter, M. A., Bahena, P., Heihoff, A., Segebarth, D., Müller, T., ... & Vona, B. (2020). A novel missense variant in MYO3A is associated with autosomal dominant high‐frequency hearing loss in a German family. Molecular Genetics & Genomic Medicine, 8(8), e1343.

Wonkam, A., Manyisa, N., Bope, C. D., Dandara, C., & Chimusa, E. R. (2020). Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon. Human molecular genetics, 29(23), 3729-3743.

Li, J., Liu, H., Raval, M. H., Wan, J., Yengo, C. M., Liu, W., & Zhang, M. (2019). Structure of the MORN4/Myo3a tail complex reveals MORN repeats as protein binding modules. Structure, 27(9), 1366-1374.

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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)
Proteogenomics
Other Protocols

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

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