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Mouse Anti-MYPN (AA 61-171) Recombinant Antibody (CBFYM-0488) (CBMAB-M0616-FY)

This product is mouse antibody that recognizes MYPN. The antibody CBFYM-0488 can be used for immunoassay techniques such as: ELISA, WB.
See all MYPN antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBFYM-0488
Antibody Isotype
IgG1
Application
ELISA, WB

Basic Information

Specificity
Human
Antibody Isotype
IgG1
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
Buffer
PBS, pH 7.2
Preservative
0.09% Sodium azide
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 61-171

Target

Full Name
myopalladin
Introduction
Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants.
Entrez Gene ID
84665
UniProt ID
Q86TC9
Alternative Names
Myopalladin; MYOP; Sarcomeric Protein Myopalladin, 145 KDa (MYOP); Sarcomeric Protein Myopalladin, 145 KDa; 145 KDa Sarcomeric Protein; CMD1DD; CMH22; NEM11; RCM4
Function
Component of the sarcomere that tethers together nebulin (skeletal muscle) and nebulette (cardiac muscle) to alpha-actinin, at the Z lines.
Biological Process
Axon guidance Source: GO_Central
Dendrite self-avoidance Source: GO_Central
Homophilic cell adhesion via plasma membrane adhesion molecules Source: GO_Central
Sarcomere organization Source: BHF-UCL
Cellular Location
Nucleus
Cytoplasm 1 Publication
Other locations
sarcomere
Z line
Note: Bound to sarcomere both at the Z-line periphery and in the central I-band region.
Involvement in disease
Nemaline myopathy 11 (NEM11):
An autosomal recessive form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM11 is characterized by slowly progressive muscle weakness and atrophy, mainly affecting the lower limbs and neck. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure.
Cardiomyopathy, dilated 1KK (CMD1KK):
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Cardiomyopathy, familial hypertrophic 22 (CMH22):
A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
Cardiomyopathy, familial restrictive 4 (RCM4):
A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function.

Orgil, B. O., Xu, F., Alberson, N., Stecchi, N., Martinez, H., Johnson, J. N., ... & Purevjav, E. (2023). Dissecting Genetic Determinants Underlying Cardioskeletal Phenotypes Induced by Myopalladin Mutation in Murine Genetic Reference Population of Hybrid BXD Strains. Circulation, 148(Suppl_1), A14573-A14573.

Polavarapu, K., Bardhan, M., Anjanappa, R. M., Vengalil, S., Preethish-Kumar, V., Shingavi, L., ... & Nalini, A. (2021). Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review. Journal of Clinical Neurology (Seoul, Korea), 17(3), 409.

Filomena, M. C., Yamamoto, D. L., Carullo, P., Medvedev, R., Ghisleni, A., Piroddi, N., ... & Bang, M. L. (2021). Myopalladin knockout mice develop cardiac dilation and show a maladaptive response to mechanical pressure overload. Elife, 10, e58313.

Kadarla, V. K. (2020). The role of myopalladin in muscle function and disease (Doctoral dissertation, Wichita State University).

Filomena, M. C., Yamamoto, D. L., Caremani, M., Kadarla, V. K., Mastrototaro, G., Serio, S., ... & Bang, M. L. (2020). Myopalladin promotes muscle growth through modulation of the serum response factor pathway. Journal of Cachexia, Sarcopenia and Muscle, 11(1), 169-194.

Filomena, M. C., Yamamoto, D. L., Carullo, P., Piroddi, N., Tesi, C., Scellini, B., ... & Bang, M. L. (2020). Myopalladin is upregulated in dilated cardiomyopathies patients and myopalladin knockout mice develop cardiac dilation and dysfunction following pressure overload. Journal of Molecular and Cellular Cardiology, 140, 43-43.

Mastroianno, S., Palumbo, P., Castellana, S., Leone, M. P., Massaro, R., Potenza, D. R., ... & Di Stolfo, G. (2020). Double missense mutations in cardiac myosin‐binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy. Annals of Noninvasive Electrocardiology, 25(3), e12687.

Merlini, L., Sabatelli, P., Antoniel, M., Carinci, V., Niro, F., Monetti, G., ... & Nigro, V. (2019). Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation. Skeletal Muscle, 9(1), 1-7.

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

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