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Mouse Anti-FRRS1L Recombinant Antibody (CBXF-1800) (CBMAB-F3335-CQ)

This product is a mouse antibody that recognizes FRRS1L. The antibody CBXF-1800 can be used for immunoassay techniques such as: WB, IP, IF, ELISA.
See all FRRS1L antibodies

Summary

Host Animal
Mouse
Specificity
Human, Mouse, Rat
Clone
CBXF-1800
Antibody Isotype
IgG
Application
WB, IP, IF, ELISA

Basic Information

Specificity
Human, Mouse, Rat
Antibody Isotype
IgG
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!]

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

Target

Full Name
Ferric Chelate Reductase 1 Like
Introduction
This gene encodes a component of the outer-core of an alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor protein in the brain. The encoded protein is thought to interact with inner-core components of the receptor, and play a role in the modulation of glutamate signaling. Mutations in this gene are associated with early infantile epileptic encephalopathy 37.
Entrez Gene ID
Human23732
Mouse230235
Rat366376
UniProt ID
HumanQ9P0K9
MouseB1AXV0
RatD3ZE85
Alternative Names
Ferric Chelate Reductase 1 Like; Brain Protein CG-6; C9orf4; Ferric-Chelate Reductase 1-Like Protein; DOMON Domain-Containing Protein FRRS1L; Chromosome 9 Open Reading Frame 4;
Function
Important modulator of glutamate signaling pathway.
Biological Process
Regulation of glutamate receptor signaling pathway Source: UniProtKB
Regulation of postsynaptic membrane neurotransmitter receptor levels Source: GO_Central
Cellular Location
Cell membrane; Synapse
Involvement in disease
Developmental and epileptic encephalopathy 37 (DEE37):
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE37 is an autosomal recessive, severe form manifesting in the first years of life. Affected individuals show hyperkinetic movement disorder with choreoathetosis, spasticity, rigidity, mental retardation, absent speech, and impaired volitional movements.
Topology
Helical: 322-342

Wang, R., Liu, C., Guo, W., Wang, L., Chen, S., Zhao, J., ... & Zhang, W. (2022). Movement disorder caused by FRRS1L deficiency may be associated with morphological and functional disorders in Purkinje cells. Brain Research Bulletin, 191, 93-106.

Mir, A., Amer, F., Ali, M., Alotaibi, W., Alotaibi, M., Hedaithy, A., ... & Housawi, Y. (2022). Continuous Spikes and Waves During Sleep (CSWS), Severe Epileptic Encephalopathy, and Choreoathetosis due to Mutations in FRRS1L. Clinical EEG and Neuroscience, 15500594221112508.

Hadi, D. A., Mohamed, A. R., Rethanavelu, K., & Khoo, T. B. (2022). Clonic seizures, continuous spikes-and-waves during slow sleep, choreoathetosis and response to sulthiame in a child with FRRS1L encephalopathy. Brain and Development, 44(1), 44-49.

Abdelmoumen, I., Jimenez, S., Valencia, I., Melvin, J., Legido, A., Diaz-Diaz, M. M., ... & Schneider, M. C. (2021). Boricua founder variant in FRRS1L causes epileptic encephalopathy with hyperkinetic movements. Journal of child neurology, 36(2), 93-98.

Yan, C., Shaker, H., Herrick, N., Kotagal, P., & Gupta, A. (2020). Perampanel associated with developmental regression in patient with FRRS1L mutation (251).

Stewart, M., Lau, P., Banks, G., Bains, R. S., Castroflorio, E., Oliver, P. L., ... & Nolan, P. M. (2019). Loss of Frrs1l disrupts synaptic AMPA receptor function, and results in neurodevelopmental, motor, cognitive and electrographical abnormalities. Disease models & mechanisms, 12(2), dmm036806.

Abdelmoumen, I., Jimenez, S., Valencia, I., Melvin, J., & Schneider, M. (2019). FRRS1L gene Homozygous Mutation (p. Gly246del) in Puerto Rican Families With Epileptic Encephalopathy and Dyskinetic Movements (P2. 5-010).

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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.).

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