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Rabbit Anti-GUF1 Recombinant Antibody (EG1470) (CBMAB-EN1756-LY)


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Summary

Host Animal
Rabbit
Specificity
Human, Mouse
Clone
EG1470
Antibody Isotype
IgG
Application
IHC: 1:50~1:100 ELISA: 1:20000

Basic Information

Immunogen
The antibody was produced against synthesized peptide derived from internal of human GUF1.
Specificity
Human, Mouse
Antibody Isotype
IgG
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 freezethaw cycles.

Target

Full Name
GTP binding elongation factor GUF1
Introduction
This gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial protein synthesis. The protein contains a highly conserved C-terminal domain not found in other GTPases that facilitates tRNA binding. The encoded protein is thought to prevent misincorporation of amino acids in stressful, suboptimal conditions. An allelic variant in this gene has been associated with early infantile epileptic encephalopathy-40. Alternative splicing results in multiple transcript variants.
Entrez Gene ID
Human60558
Mouse231279
UniProt ID
HumanQ8N442
MouseQ8C3X4
Alternative Names
EF4; EF-4; DEE40; EIEE40
Function
Promotes mitochondrial protein synthesis. May act as a fidelity factor of the translation reaction, by catalyzing a one-codon backward translocation of tRNAs on improperly translocated ribosomes. Binds to mitochondrial ribosomes in a GTP-dependent manner.
Biological Process
Positive regulation of translation Source: GO_Central
Translation Source: UniProtKB-KW
Cellular Location
Mitochondrion inner membrane
Involvement in disease
Developmental and epileptic encephalopathy 40 (DEE40):
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. DEE40 inheritance is autosomal recessive.
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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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