Anti-GLCNE antibody (ab103843)
- Product nameAnti-GLCNE antibodySee all GLCNE primary antibodies ...
- DescriptionRabbit polyclonal to GLCNE
- Tested applicationsWB more details
- Species reactivityReacts with: Mouse, Human
Synthetic peptide conjugated to KLH, corresponding to a region within C terminal amino acids 588-618 of Human GLCNE (NP_005467.1).
- Positive controlMouse kidney tissue lysates.
- Storage instructionsStore at 4°C (up to 6 months). For long term storage store at -20°C
- Storage bufferPreservative: 0.09% Sodium Azide
- Concentration information loading...
- PurityImmunogen affinity purified
- Purification notesab103843 is purified through a protein A column, followed by peptide affinity purification.
- Clonality Polyclonal
- Research Areas
Our Abpromise guarantee covers the use of ab103843 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
|WB||WB: 1/100 - 1/500. Predicted molecular weight: 79 kDa.|
- FunctionRegulates and initiates biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. Plays an essential role in early development (By similarity). Required for normal sialylation in hematopoietic cells. Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of malignant cells.
- Tissue specificityHighest expression in liver and placenta. Also found in heart, brain, lung, kidney, skeletal muscle and pancreas. Isoform 1 is expressed in heart, brain, kidney, liver, placenta, lung, spleen, pancreas, skeletal muscle and colon. Isoform 2 is expressed mainly in placenta, but also in brain, kidney, liver, lung, pancreas and colon. Isoform 3 is expressed at low level in kidney, liver, placenta and colon.
- PathwayAmino-sugar metabolism; N-acetylneuraminate biosynthesis.
- Involvement in diseaseDefects in GNE are a cause of sialuria (SIALURIA) [MIM:269921]; also known as sialuria French type. In sialuria, free sialic acid accumulates in the cytoplasm and gram quantities of neuraminic acid are secreted in the urine. The metabolic defect involves lack of feedback inhibition of UDP-GlcNAc 2-epimerase by CMP-Neu5Ac, resulting in constitutive overproduction of free Neu5Ac. Clinical features include variable degrees of developmental delay, coarse facial features and hepatomegaly. Sialuria inheritance is autosomal dominant.
Defects in GNE are the cause of inclusion body myopathy type 2 (IBM2) [MIM:600737]. Hereditary inclusion body myopathies are a group of neuromuscular disorders characterized by adult onset, slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. IBM2 is an autosomal recessive disorder affecting mainly leg muscles, but with an unusual distribution that spares the quadriceps as also observed in Nonaka myopathy.
Defects in GNE are the cause of Nonaka myopathy (NM) [MIM:605820]; also known as distal myopathy with rimmed vacuoles (DMRV). NM is an autosomal recessive muscular disorder, allelic to inclusion body myopathy 2. It is characterized by weakness of the anterior compartment of the lower limbs with onset in early adulthood, and sparing of the quadriceps muscles. As the inclusion body myopathy, NM is histologically characterized by the presence of numerous rimmed vacuoles without inflammatory changes in muscle specimens.
- Sequence similaritiesIn the N-terminal section; belongs to the UDP-N-acetylglucosamine 2-epimerase family.
In the C-terminal section; belongs to the ROK (NagC/XylR) family.
modificationsPhosphorylated by PKC.
- Cellular localizationCytoplasm.
- 2310066H07Rik antibodyBifunctional UDP N acetylglucosamine 2 epimerase/N acetylmannosamine kinase antibodyDMRV antibody
- GLCNE_HUMAN antibodyGNE antibodyIBM2 antibodyManAc kinase antibodyN acylmannosamine kinase antibodyN-acetylmannosamine kinase antibodyNM antibodyRP23-209M8.6 antibodyUae1 antibodyUDP GlcNAc 2 epimerase antibodyUDP GlcNAc 2 epimerase/ManAc kinase antibodyUDP-GlcNAc-2-epimerase antibodyUDP-GlcNAc-2-epimerase/ManAc kinase antibodyUridine diphosphate N acetylglucosamine 2 epimerase antibodyUridine diphosphate-N-acetylglucosamine-2-epimerase antibody
Anti-GLCNE antibody images
Anti-GLCNE antibody (ab103843) at 1/100 dilution + Mouse kidney tissue lysates at 35 µg
Predicted band size : 79 kDa
References for Anti-GLCNE antibody (ab103843)
ab103843 has not yet been referenced specifically in any publications.