Mouse Anti-MYBPC1 Recombinant Antibody (CBFYM-0215) (CBMAB-M0258-FY)

Name: Mouse Anti-MYBPC1 Recombinant Antibody (CBFYM-0215)
SKU: CBMAB-M0258-FY
Rating: 5 (1 reviews)

See all MYBPC1 antibodies

Compare Online Inquiry

Datasheet

SDS

Request for COA

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

Basic Information

Host Animal

Mouse

Clone

CBFYM-0215

Application

Immunogen

Crude preparation of human skeletal myosin

Specificity

Human, Mouse, Rat

Antibody Isotype

IgG1

Clonality

Monoclonal

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.

More Infomation

Target

Full Name

myosin binding protein C, slow type

Introduction

This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Entrez Gene ID

Human	4604
Mouse	109272
Rat	362867

UniProt ID

Human	Q00872
Mouse	Q6P6L5
Rat	Q63518

Alternative Names

Myosin Binding Protein C, Slow Type; C-Protein, Skeletal Muscle Slow Isoform; Myosin-Binding Protein C, Slow-Type; Slow MyBP-C; MYBPCS; Skeletal Muscle C-Protein; MYBPCC; LCCS4

Function

Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. Slow skeletal protein that binds to both myosin and actin (PubMed:31264822, PubMed:31025394).

In vitro, binds to native thin filaments and modifies the activity of actin-activated myosin ATPase. May modulate muscle contraction or may play a more structural role.

Biological Process

Cell adhesion Source: UniProtKB-KW
Muscle contraction Source: Ensembl

Cellular Location

Cytosol
Other locations
Myofibril
Myosin filament

Involvement in disease

Arthrogryposis, distal, 1B (DA1B):
A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected.
Lethal congenital contracture syndrome 4 (LCCS4):
A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.
Myopathy, congenital, with tremor (MYOTREM):
An autosomal dominant muscular disorder characterized by muscle weakness, hypotonia associated with high-frequency postural tremor of the limbs, mildly delayed walking, and steppage gait. Additional features include skeletal deformities such as scoliosis, thoracic asymmetry and spinal rigidity. Some patients show mild facial dysmorphic features. Cognitive functions are normal.

Leduc-Pessah, H., Smith, I. C., Kernohan, K. D., Sampaio, M., Melkus, G., Strasser, L., ... & Warman-Chardon, J. (2024). Congenital tremor and myopathy secondary to novel MYBPC1 variant. Journal of the Neurological Sciences, 122864.

Liu, J., Song, J., & Li, C. (2023). MYBPC1 is a key regulator for laryngeal carcinoma formation. Anti-Cancer Drugs, 34(1), 1.

Jiang, S. N., Cao, J. W., Liu, L. Y., Zhou, Y., Shan, G. Y., Fu, Y. H., ... & Yu, Y. C. (2023). Sncg, Mybpc1, and Parm1 Classify subpopulations of VIP-expressing interneurons in layers 2/3 of the somatosensory cortex. Cerebral Cortex, 33(8), 4293-4304.

Zhao, Y., Yan, C., & Ji, K. (2023). Ultrasonography of Muscle Vibration Caused by MYBPC1 Variant. JAMA neurology.

Uneoka, S., Kobayashi, T., Numata-Uematsu, Y., Oikawa, Y., Katata, Y., Okubo, Y., ... & Uematsu, M. (2023). A case series of patients with MYBPC1 gene variants featuring undulating tongue movements as myogenic tremor. Pediatric Neurology.

Hauserman, J. G., Stavusis, J., Joca, H. C., Robinett, J. C., Hanft, L., Vandermeulen, J., ... & Kontrogianni-Konstantopoulos, A. (2021). Sarcomeric deficits underlie MYBPC1-associated myopathy with myogenic tremor. JCI insight, 6(19).

Guo, W. L., Geng, J., Zhao, J. G., Fang, F., Huang, S. G., & Wang, J. (2019). Gene expression profiling reveals upregulated FUT1 and MYBPC1 in children with pancreaticobiliary maljunction. Brazilian Journal of Medical and Biological Research, 52.

Shashi, V., Geist, J., Lee, Y., Yoo, Y., Shin, U., Schoch, K., ... & Marwaha, S. (2019). Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. Human mutation, 40(8), 1115-1126.

Stavusis, J., Lace, B., Schäfer, J., Geist, J., Inashkina, I., Kidere, D., ... & Bönnemann, C. G. (2019). Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy. Annals of neurology, 86(1), 129-142.

Ask a question We look forward to hearing from you.

0 reviews or Q&As

Purchasing FAQs
Technical FAQs

Have you used Mouse Anti-MYBPC1 Recombinant Antibody (CBFYM-0215)?
Submit a review and get a Coupon or an Amazon gift card. 20% off Coupon

$30 eGift Card
Submit a review

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

Related Products

Recombinant Mouse Anti-MYBPC1 Recombinant Antibody (83B24) (CAT#: CBMAB-XB0856-YC)

Recombinant Mouse Anti-MYBPC1 Recombinant Antibody (98/9) (CAT#: CBMAB-XB0857-YC)

Mouse Anti-MYBPC1 Recombinant Antibody (3G4) (CAT#: CBMAB-A5709-LY)

Isotype control

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

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

Online Inquiry

Request bulk or custom quote Second antibody and isotype control

Contact us

Tel: (USA)
(UK)
Fax:

Global Locations

Email:

Online Inquiry