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

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

CBXF-1800

Application

WB, IP, IF, ELISA

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.

More Infomation

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

Human	23732
Mouse	230235
Rat	366376

UniProt ID

Human	Q9P0K9
Mouse	B1AXV0
Rat	D3ZE85

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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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)
Proteogenomic
Other Protocols

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.).

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