GFPT1 Rabbit pAb
GFPT1 Rabbit pAb
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Application
| IHC-P, IHC-F, IF |
|---|---|
| Primary Accession | Q06210 |
| Reactivity | Human |
| Predicted | Mouse, Rat, Chicken, Dog, Pig, Horse, Rabbit, Sheep |
| Host | Rabbit |
| Clonality | Polyclonal |
| Calculated MW | 78806 Da |
| Physical State | Liquid |
| Immunogen | KLH conjugated synthetic peptide derived from human GFPT1 |
| Epitope Specificity | 601-699/699 |
| Isotype | IgG |
| Purity | affinity purified by Protein A |
| Buffer | 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol. |
| SIMILARITY | Contains 1 glutamine amidotransferase type-2 domain. Contains 2 SIS domains. |
| SUBUNIT | Homotetramer |
| DISEASE | Defects in GFPT1 are the cause of limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542]. A congenital myasthenic syndrome characterized by onset of proximal muscle weakness in the first decade. Individuals with this condition have a recognizable pattern of weakness of shoulder and pelvic girdle muscles, and sparing of ocular or facial muscles. EMG classically shows a decremental response to repeated nerve stimulation, a sign of neuromuscular junction dysfunction. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors. |
| Important Note | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
| Background Descriptions | Glutamine:fructose-6-phosphate amidotransferase (GFAT1) is the first and rate-limiting enzyme for the entry of glucose into the hexosamine biosynthesis pathway (HBP) in mammals. GFAT1, a member of the N-terminal nucleophile class of amidotransferases, converts fructose-6-phosphate into N-acetylglucosamine-6-phosphate. Hyperglycemia-induced insulin resistance, a condition in which exposure to high concentrations of glucose and insulin results in insulin resistance, may result from increased glucose metabolism through the HBP. Hypergylcemia-induced insulin resistance is a characteristic feature of type 2 diabetes. Consequently, GFAT1 is a potential therapeutic target in the treatment of type 2 diabetes. |
| Gene ID | 2673 |
|---|---|
| Other Names | Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1, 2.6.1.16, D-fructose-6-phosphate amidotransferase 1, Glutamine:fructose-6-phosphate amidotransferase 1, GFAT 1, GFAT1, Hexosephosphate aminotransferase 1, GFPT1, GFAT, GFPT |
| Target/Specificity | Isoform 1 is predominantly expressed in skeletal muscle. Not expressed in brain. Seems to be selectively expressed in striated muscle. |
| Dilution | IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500 |
| Storage | Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. |
| Name | GFPT1 (HGNC:4241) |
|---|---|
| Synonyms | GFAT, GFPT |
| Function | Rate-limiting enzyme of the hexosamine biosynthetic pathway (HBP) that catalyzes the formation of glucosamine-6-phosphate from fructose-6-phosphate and glutamine, thereby controlling the flux of glucose into this pathway (PubMed:32019926, PubMed:35229715). Inhibited by UDP-N-acetylglucosamine (UDP-GlcNAc) through a feedback loop (PubMed:32019926, PubMed:35229715). Fine-tunes the metabolic fluctuations of UDP-GlcNAc and its impacts on hyaluronan synthesis during tissue remodeling (PubMed:26887390). Via control of the HPB, regulates the availability of precursors for N- and O-linked protein glycosylation and modulates peripheral clock oscillation (By similarity). |
| Tissue Location | [Isoform 1]: Predominantly expressed in skeletal muscle. Not expressed in brain. Seems to be selectively expressed in striated muscle. |
For Research Use Only. Not For Use In Diagnostic Procedures.
Provided below are standard protocols that you may find useful for product applications.
BACKGROUND
Glutamine:fructose-6-phosphate amidotransferase (GFAT1) is the first and rate-limiting enzyme for the entry of glucose into the hexosamine biosynthesis pathway (HBP) in mammals. GFAT1, a member of the N-terminal nucleophile class of amidotransferases, converts fructose-6-phosphate into N-acetylglucosamine-6-phosphate. Hyperglycemia-induced insulin resistance, a condition in which exposure to high concentrations of glucose and insulin results in insulin resistance, may result from increased glucose metabolism through the HBP. Hypergylcemia-induced insulin resistance is a characteristic feature of type 2 diabetes. Consequently, GFAT1 is a potential therapeutic target in the treatment of type 2 diabetes.
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