Key features and details
- Rabbit polyclonal to GFPT1
- Suitable for: IHC-P
- Reacts with: Human
- Isotype: IgG
存放说明Shipped at 4°C. Store at -80°C.
存储溶液Preservative: 0.1% Sodium azide
Constituent: 99% PBS
Concentration information loading...
纯度Immunogen affinity purified
Our Abpromise guarantee covers the use of ab129273 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
|IHC-P||Use a concentration of 2.5 - 5 µg/ml. Perform heat mediated antigen retrieval with citrate buffer pH 6 before commencing with IHC staining protocol.|
功能Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins.
组织特异性Isoform 1 is predominantly expressed in skeletal muscle. Not expressed in brain. Seems to be selectively expressed in striated muscle.
通路Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D-glucosamine biosynthesis; alpha-D-glucosamine 6-phosphate from D-fructose 6-phosphate: step 1/1.
疾病相关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.
序列相似性Contains 1 glutamine amidotransferase type-2 domain.
Contains 2 SIS domains.
- Information by UniProt
- CMS12 antibody
- CMSTA1 antibody
- D-fructose-6-phosphate amidotransferase 1 antibody